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          "DOAJ"
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                    "month": 0,
                    "title": "A Biomechanical Comparison of Expansive Pedicle Screws for Severe Osteoporosis: The Effects of Screw Design and Cement Augmentation.",
                    "authors": [
                      {
                        "name": "Ching-Lung Tai",
                        "orcid": null,
                        "affiliation": null
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                      {
                        "name": "Tsung-Ting Tsai",
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                        "name": "Po-Liang Lai",
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                      {
                        "name": "Yi-Lu Chen",
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                      {
                        "name": "Mu-Yi Liu",
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                        "EN"
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                    "abstract": "Expansive pedicle screws significantly improve fixation strength in osteoporotic spines. However, the previous literature does not adequately address the effects of the number of lengthwise slits and the extent of screw expansion on the strength of the bone/screw interface when expansive screws are used with or without cement augmentation. Herein, four designs for expansive pedicle screws with different numbers of lengthwise slits and different screw expansion levels were evaluated. Synthetic bones simulating severe osteoporosis were used to provide a comparative platform for each screw design. The prepared specimens were then tested for axial pullout failure. Regardless of screw design, screws with cement augmentation demonstrated significantly higher pullout strength than pedicle screws without cement augmentation (p < 0.001). For screws without cement augmentation, solid screws exhibited the lowest pullout strength compared to the four expansive groups (p < 0.01). No significant differences in pullout strength were observed between the expansive screws with different designs (p > 0.05). Taken together, our results show that pedicle screws combined with cement augmentation may greatly increase screw fixation regardless of screws with or without expansion. An increase in both the number of slits and the extent of screw expansion had little impact on the screw-anchoring strength. Cement augmentation is the most influential factor for improving screw pullout strength.",
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                    "month": null,
                    "title": "Responsabilidad Prospectiva Ciudadana en Sociedades Algorítmicamente Mediadas: Ética Cívica, Justicia Epistémica e Innovación Democrática",
                    "authors": [
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                        "name": "Rafael Alejandro Betancourt Durango",
                        "orcid": "https://orcid.org/0000-0002-6423-4864",
                        "affiliation": "Universidad Pontificia Bolivariana"
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                        "name": "Diego Alejandro Correa Correa",
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                        "affiliation": "Institución Universitaria de Envigado"
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                      {
                        "name": "Conrado Giraldo Zuluaga",
                        "orcid": "https://orcid.org/0000-0003-1885-9158",
                        "affiliation": "Universidad Pontificia Bolivariana"
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                      {
                        "name": "Eduar Antonio Rodríguez Flores",
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                        "affiliation": "Universidad Autónoma de Perú"
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                      "title": "Nuevo Derecho",
                      "number": "39",
                      "volume": "22",
                      "country": "CO",
                      "language": [
                        "EN",
                        "ES",
                        "PT"
                      ],
                      "publisher": "Institución Universitaria de Envigado"
                    },
                    "abstract": "\nLas democracias contemporáneas afrontan un desafío filosófico de primera magnitud: la colonización algorítmicamente mediada de la deliberación pública, la formación epistémica y la identidad cívica por sistemas cuya lógica opera de manera opaca, asimétrica y orientada a la optimización de comportamientos antes que al fortalecimiento democrático. Este artículo propone la Responsabilidad Prospectiva Ciudadana (RPC) como categoría filosófica original para conceptualizar la ciudadanía ética activa en sociedades algorítmicamente mediadas. A partir de una revisión sistemática de 127 artículos arbitrados identificados en dos bases de datos complementarias — Web of Science (A&HCI + SSCI, n = 77) y Scopus (ARTS / SOCI / COMP, n = 50) — mediante 12 ecuaciones de búsqueda para el período 2015-2026, e integrando seis tradiciones filosóficas (Jonas, Habermas, Rawls, Mouffe, Fricker y Floridi) con los marcos de democracia contestataria y poder constituyente de Mejía Quintana, Lefort, Rosanvallon y Abensour, el artículo demuestra que la literatura especializada ha producido un diagnóstico extraordinariamente sofisticado de las transformaciones algorítmicas (70% del corpus, Ejes 1-4) mientras deja dramáticamente subdesarrollada la respuesta filosófica normativa desde la perspectiva del ciudadano ordinario (30%, Ejes 5-8). El proceso de deduplicación sistemática eliminó 126 registros duplicados (96 entre bases WoS-Scopus, 29 internos de Scopus, 1 interno de WoS) de los 2.483 registros identificados, obteniendo 2.357 registros únicos para cribado. Se derivan seis principios normativos del análisis filosófico integrado: transparencia algorítmica (P1), explicabilidad y derecho de impugnación (P2), equidad epistémica (P3), participación en la gobernanza (P4), solidaridad informacional (P5) y resistencia informada (P6). Estos principios tienen implicaciones directas para el diseño de innovaciones democráticas en contextos digitales polarizados, incluidos el AI Act europeo, las recomendaciones de ética de la IA de la UNESCO y los procesos democráticos participativos de próxima generación.\n",
                    "keywords": [
                      "responsabilidad prospectiva ciudadana",
                      "mediación algorítmica",
                      "justicia epistémica",
                      "democracia deliberativa",
                      "gobernanza de IA",
                      "innovación democrática"
                    ],
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                        "term": "Law",
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                        "term": "Law in general. Comparative and uniform law. Jurisprudence",
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                      {
                        "doi": "10.1371/journal.pone.0257164",
                        "year": 2021,
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                        "month": 0,
                        "title": "The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies.",
                        "authors": [
                          {
                            "name": "Veronica J Vieland",
                            "orcid": null,
                            "affiliation": null
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                          {
                            "name": "Sang-Cheol Seok",
                            "orcid": null,
                            "affiliation": null
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                            "1932-6203"
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                          "title": "PLoS ONE",
                          "number": "9",
                          "volume": "16",
                          "country": "US",
                          "language": [
                            "EN"
                          ],
                          "publisher": "Public Library of Science (PLoS)"
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                        "abstract": "In earlier work, we have developed and evaluated an alternative approach to the analysis of GWAS data, based on a statistic called the PPLD. More recently, motivated by a GWAS for genetic modifiers of the X-linked Mendelian disorder Duchenne Muscular Dystrophy (DMD), we adapted the PPLD for application to time-to-event (TE) phenotypes. Because DMD itself is relatively rare, this is a setting in which the very large sample sizes generally assembled for GWAS are simply not attainable. For this reason, statistical methods specially adapted for use in small data sets are required. Here we explore the behavior of the TE-PPLD via simulations, comparing the TE-PPLD with Cox Proportional Hazards analysis in the context of small to moderate sample sizes. Our results will help to inform our approach to the DMD study going forward, and they illustrate several respects in which the TE-PPLD, and by extension the original PPLD, offer advantages over regression-based approaches to GWAS in this context.",
                        "subjects": [
                          {
                            "code": "R",
                            "term": "Medicine",
                            "scheme": "LCC"
                          },
                          {
                            "code": "Q",
                            "term": "Science",
                            "scheme": "LCC"
                          }
                        ],
                        "articleId": "00003499008840e299ffa0b2baec2e63",
                        "createdAt": "2021-10-20T17:28:34Z",
                        "startPage": "e0257164",
                        "updatedAt": "2025-08-19T20:27:56Z",
                        "identifiers": [
                          {
                            "id": "1932-6203",
                            "type": "eissn"
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                          {
                            "id": "10.1371/journal.pone.0257164",
                            "type": "doi"
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                        ]
                      },
                      {
                        "doi": "10.1371/journal.pone.0059431",
                        "year": 2013,
                        "links": [
                          {
                            "url": "http://europepmc.org/articles/PMC3632550?pdf=render",
                            "type": "fulltext",
                            "contentType": null
                          }
                        ],
                        "month": 0,
                        "title": "The niche-derived glial cell line-derived neurotrophic factor (GDNF) induces migration of mouse spermatogonial stem/progenitor cells.",
                        "authors": [
                          {
                            "name": "Lisa Dovere",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Stefania Fera",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Margherita Grasso",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Dante Lamberti",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Cesare Gargioli",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Barbara Muciaccia",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Anna Maria Lustri",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Mario Stefanini",
                            "orcid": null,
                            "affiliation": null
                          }
                        ],
                        "endPage": null,
                        "journal": {
                          "issns": [
                            "1932-6203"
                          ],
                          "title": "PLoS ONE",
                          "number": "4",
                          "volume": "8",
                          "country": "US",
                          "language": [
                            "EN"
                          ],
                          "publisher": "Public Library of Science (PLoS)"
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                        "abstract": "In mammals, the biological activity of the stem/progenitor compartment sustains production of mature gametes through spermatogenesis. Spermatogonial stem cells and their progeny belong to the class of undifferentiated spermatogonia, a germ cell population found on the basal membrane of the seminiferous tubules. A large body of evidence has demonstrated that glial cell line-derived neurotrophic factor (GDNF), a Sertoli-derived factor, is essential for in vivo and in vitro stem cell self-renewal. However, the mechanisms underlying this activity are not completely understood. In this study, we show that GDNF induces dose-dependent directional migration of freshly selected undifferentiated spermatogonia, as well as germline stem cells in culture, using a Boyden chamber assay. GDNF-induced migration is dependent on the expression of the GDNF co-receptor GFRA1, as shown by migration assays performed on parental and GFRA1-transduced GC-1 spermatogonial cell lines. We found that the actin regulatory protein vasodilator-stimulated phosphoprotein (VASP) is specifically expressed in undifferentiated spermatogonia. VASP belongs to the ENA/VASP family of proteins implicated in actin-dependent processes, such as fibroblast migration, axon guidance, and cell adhesion. In intact seminiferous tubules and germline stem cell cultures, GDNF treatment up-regulates VASP in a dose-dependent fashion. These data identify a novel role for the niche-derived factor GDNF, and they suggest that GDNF may impinge on the stem/progenitor compartment, affecting the actin cytoskeleton and cell migration.",
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                            "code": "R",
                            "term": "Medicine",
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                            "term": "Science",
                            "scheme": "LCC"
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                        "articleId": "000048ce454c4c0e9d56dbd26415ae68",
                        "createdAt": "2016-06-14T22:51:56Z",
                        "startPage": "e59431",
                        "updatedAt": "2025-08-19T19:17:48Z",
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                          {
                            "id": "1932-6203",
                            "type": "eissn"
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                            "id": "10.1371/journal.pone.0059431",
                            "type": "doi"
                          }
                        ]
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                      {
                        "doi": "10.1371/journal.pone.0109122",
                        "year": 2014,
                        "links": [
                          {
                            "url": "http://europepmc.org/articles/PMC4183547?pdf=render",
                            "type": "fulltext",
                            "contentType": null
                          }
                        ],
                        "month": 0,
                        "title": "De novo transcriptome and small RNA analysis of two Chinese willow cultivars reveals stress response genes in Salix matsudana.",
                        "authors": [
                          {
                            "name": "Guodong Rao",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Jinkai Sui",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Yanfei Zeng",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Caiyun He",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Aiguo Duan",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Jianguo Zhang",
                            "orcid": null,
                            "affiliation": null
                          }
                        ],
                        "endPage": null,
                        "journal": {
                          "issns": [
                            "1932-6203"
                          ],
                          "title": "PLoS ONE",
                          "number": "10",
                          "volume": "9",
                          "country": "US",
                          "language": [
                            "EN"
                          ],
                          "publisher": "Public Library of Science (PLoS)"
                        },
                        "abstract": "Salix matsudana Koidz. is a deciduous, rapidly growing, and drought resistant tree and is one of the most widely distributed and commonly cultivated willow species in China. Currently little transcriptomic and small RNAomic data are available to reveal the genes involve in the stress resistant in S. matsudana. Here, we report the RNA-seq analysis results of both transcriptome and small RNAome data using Illumina deep sequencing of shoot tips from two willow variants(Salix. matsudana and Salix matsudana Koidz. cultivar 'Tortuosa'). De novo gene assembly was used to generate the consensus transcriptome and small RNAome, which contained 106,403 unique transcripts with an average length of 944 bp and a total length of 100.45 MB, and 166 known miRNAs representing 35 miRNA families. Comparison of transcriptomes and small RNAomes combined with quantitative real-time PCR from the two Salix libraries revealed a total of 292 different expressed genes(DEGs) and 36 different expressed miRNAs (DEMs). Among the DEGs and DEMs, 196 genes and 24 miRNAs were up regulated, 96 genes and 12 miRNA were down regulated in S. matsudana. Functional analysis of DEGs and miRNA targets showed that many genes were involved in stress resistance in S. matsudana. Our global gene expression profiling presents a comprehensive view of the transcriptome and small RNAome which provide valuable information and sequence resources for uncovering the stress response genes in S. matsudana. Moreover the transcriptome and small RNAome data provide a basis for future study of genetic resistance in Salix.",
                        "subjects": [
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                            "code": "R",
                            "term": "Medicine",
                            "scheme": "LCC"
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                            "term": "Science",
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                        "updatedAt": "2025-08-19T19:13:38Z",
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                            "id": "10.1371/journal.pone.0109122",
                            "type": "doi"
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            "description": "Metadata schema. oai_doaj adds journal, volume and full-text fields. Default oai_dc",
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            "required": false,
            "description": "setSpec from harvest-sets, restricting the harvest to one subject",
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            "required": false,
            "description": "Upper bound on the record datestamp, YYYY-MM-DD or a UTC timestamp",
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              "example": "2026-07-31"
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                  "content": {
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                    "items": [
                      {
                        "doi": "10.1136/bmjhci-2025-101636",
                        "url": "https://doaj.org/article/ff7878e5b5d84fa59c960e2ab33d2f6e",
                        "date": "2026-07-01T00:00:00Z",
                        "sets": [
                          "TENDOkNvbXB1dGVyIGFwcGxpY2F0aW9ucyB0byBtZWRpY2luZS4gTWVkaWNhbCBpbmZvcm1hdGljcw~~"
                        ],
                        "type": "article",
                        "issns": [
                          "2632-1009"
                        ],
                        "title": "Novel two-stage deep learning framework for automated pressure injury classification",
                        "deleted": false,
                        "sources": [
                          "BMJ Health & Care Informatics, Vol 33, Iss 1 (2026)"
                        ],
                        "creators": [
                          "Chien-Wei Chen",
                          "Ting-Yu Lai",
                          "Yi-Jiun Chou",
                          "Chun-You Liu",
                          "Ching-Ting Lin",
                          "Wei-Chun Wang",
                          "Yimin Hsu",
                          "Ming-Li Hsieh"
                        ],
                        "recordId": "ff7878e5b5d84fa59c960e2ab33d2f6e",
                        "subjects": [
                          "Computer applications to medicine. Medical informatics",
                          "R858-859.7"
                        ],
                        "datestamp": "2026-07-31T00:40:51Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "BMJ Publishing Group",
                        "relations": [
                          "https://informatics.bmj.com/content/33/1/e101636.full",
                          "https://doaj.org/toc/2632-1009"
                        ],
                        "identifier": "oai:doaj.org/article:ff7878e5b5d84fa59c960e2ab33d2f6e",
                        "description": "Objective The study aims to develop an artificial intelligence (AI) framework for automatic pressure injury (PI) staging directly from raw clinical images, without requiring manual lesion localisation. By integrating a two-stage deep learning approach—combining object detection and image classification—the proposed system seeks to improve diagnostic accuracy, reduce subjectivity and support consistent staging in real-world clinical workflows.Methods We conducted a retrospective study using 1807 PI images from China Medical University Hospital collected between 2020 and 2024. Lesions were annotated by five senior nurses with consensus. YOLOv9 was used for lesion detection, and DenseNet161 for staging. Performance metrics included accuracy, sensitivity, specificity, F1 score, area under the curve (AUC) and mean average precision (mAP)@0.5.Results The object detection model (YOLOv9) achieved an mAP@0.5 of 0.796. On the independent test set (n=365), the staging model demonstrated an overall accuracy of 0.775, sensitivity of 0.775, specificity of 0.955, precision of 0.779 and F1 score of 0.775.Discussion The proposed two-stage AI framework—using YOLOv9 for lesion localisation and DenseNet161 for staging—demonstrated performance comparable to or exceeding previously reported approaches, while offering improved clinical interpretability when applied to real-world clinical images. By separating detection and classification, the framework reduced background noise and improved the ability to distinguish visually similar PI stages. However, challenges remain in handling intra-wound heterogeneity, subtle early-stage boundaries and variability in image quality.Conclusions This two-stage AI system may assist clinical staff by providing standardised, reproducible PI staging from clinical images, with potential for integration into nursing workflows.",
                        "identifiers": [
                          "10.1136/bmjhci-2025-101636",
                          "2632-1009",
                          "https://doaj.org/article/ff7878e5b5d84fa59c960e2ab33d2f6e"
                        ]
                      },
                      {
                        "doi": "10.1136/bmjopen-2025-110435",
                        "url": "https://doaj.org/article/070a6d2b17954a308d65ae33823293c8",
                        "date": "2026-02-01T00:00:00Z",
                        "sets": [
                          "TENDOk1lZGljaW5l"
                        ],
                        "type": "article",
                        "issns": [
                          "2044-6055"
                        ],
                        "title": "Cognitive and physical exercise to improve outcomes after surgery (COPE-iOS) study: protocol for a randomised, controlled trial in the USA examining the efficacy of a combined cognitive and physical exercise programme performed before and after major surgery in improving cognitive and functional outcomes for older adults",
                        "deleted": false,
                        "sources": [
                          "BMJ Open, Vol 16, Iss 2 (2026)"
                        ],
                        "creators": [
                          "Pratik P Pandharipande",
                          "Christopher G Hughes",
                          "Kimberly F Rengel",
                          "Kristin R Archer",
                          "Jim C Jackson",
                          "Rameela Raman",
                          "Onur M Orun",
                          "Terri Ellison"
                        ],
                        "recordId": "070a6d2b17954a308d65ae33823293c8",
                        "subjects": [
                          "Medicine",
                          "R"
                        ],
                        "datestamp": "2026-07-31T00:35:59Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "BMJ Publishing Group",
                        "relations": [
                          "https://bmjopen.bmj.com/content/16/2/e110435.full",
                          "https://doaj.org/toc/2044-6055"
                        ],
                        "identifier": "oai:doaj.org/article:070a6d2b17954a308d65ae33823293c8",
                        "description": "Introduction Surgery and its resulting hospitalisation are associated with subsequent cognitive and functional decline. Interventions to reduce this decline have exhibited limited success. Prehabilitation is the process of enhancing capacity and reserve before an acute stressor to improve tolerance of the acute physiologic insult. Older adults requiring major surgery are an ideal population for prehabilitation. Prehabilitation exercise studies have mostly focused on physical training to improve physical outcomes after specific surgery types, and data on cognitive outcomes and in broader surgical populations are needed. Computerised cognitive training (CCT) has been shown to enhance memory, processing speed, attention and multitasking. Combining CCT with a physical exercise may be most effective in reducing cognitive and functional decline in older patients undergoing major surgery, but has yet to be evaluated.Methods and analysis The COgnitive and Physical Exercise to improve Outcomes after Surgery (COPE-iOS) study is a randomised, controlled, participant and assessor blinded clinical trial testing the hypothesis that a pragmatic programme combining CCT and physical exercise throughout the perioperative (ie, preoperative and postoperative) period will improve long-term cognitive and disability outcomes in older surgical patients at high risk for decline. The trial aims to randomise 250 patients who undergo major surgery for a treatment period of approximately 1 month prior to surgery and 3 months after surgery, with a follow-up period of 12 months after surgery. The primary outcome is global cognition at 3 months after surgery. Key secondary outcomes include global cognition at 12 months after surgery and disability in activities of daily living and depression at 3 and 12 months after surgery.Ethics and dissemination Trial protocol has been approved by Vanderbilt Human Research Protections Programme (#202496) and an independent Data Safety Monitoring Board. Results will be presented at scientific conferences and submitted for publication.Trial registration number ClinicalTrials.gov Registry NCT04889417.",
                        "identifiers": [
                          "10.1136/bmjopen-2025-110435",
                          "2044-6055",
                          "https://doaj.org/article/070a6d2b17954a308d65ae33823293c8"
                        ]
                      },
                      {
                        "doi": "10.1136/bmjopen-2025-115288",
                        "url": "https://doaj.org/article/5c541148d88947c2a150b0d5a3ae4ff2",
                        "date": "2026-03-01T00:00:00Z",
                        "sets": [
                          "TENDOk1lZGljaW5l"
                        ],
                        "type": "article",
                        "issns": [
                          "2044-6055"
                        ],
                        "title": "PRECISION study: impact of personalised cardiac anaesthesia and cerebral autoregulation on neurological outcomes in patients undergoing cardiac surgery – protocol for an international, multicentre, prospective cohort study",
                        "deleted": false,
                        "sources": [
                          "BMJ Open, Vol 16, Iss 3 (2026)"
                        ],
                        "creators": [
                          "David K Menon",
                          "Marek Czosnyka",
                          "Christian Schindler",
                          "Peter Smielewski",
                          "Erta Beqiri",
                          "Luzius A Steiner",
                          "Martin Siegemund",
                          "Salome Dell-Kuster"
                        ],
                        "recordId": "5c541148d88947c2a150b0d5a3ae4ff2",
                        "subjects": [
                          "Medicine",
                          "R"
                        ],
                        "datestamp": "2026-07-31T00:26:09Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "BMJ Publishing Group",
                        "relations": [
                          "https://bmjopen.bmj.com/content/16/3/e115288.full",
                          "https://doaj.org/toc/2044-6055"
                        ],
                        "identifier": "oai:doaj.org/article:5c541148d88947c2a150b0d5a3ae4ff2",
                        "description": "Introduction Adverse neurological complications, including postoperative delirium (POD) and stroke, remain one of the major risks after cardiac surgery. A lack of comprehensive knowledge about their causes and neuroprotective strategies has hindered the development of effective interventions to reduce these events. Personalised cerebral autoregulation (CA)-oriented blood pressure monitoring aims to identify blood pressure targets tailored to each individual patient, thereby reducing brain injury. The PRECISION study aims to assess whether perioperative duration and magnitude of mean arterial pressure (MAP) deviation from an individual’s CA limits are associated with adverse neurological complications.Methods and analysis This international, multicentre, prospective cohort study is conducted at two Swiss and one British hospital. Patients aged 65 years or older undergoing elective primary or re-operative coronary artery bypass graft and/or valvular and/or ascending aorta surgery requiring cardiopulmonary bypass are included. Preoperatively, the patient’s baseline of physical, cognitive and mental status is established. Intraoperatively, near-infrared spectroscopy (NIRS) and transcranial Doppler (TCD) are recorded in real-time to generate NIRS-derived and TCD-derived CA indices. The primary endpoint is POD, assessed daily on postoperative days 0 to 7 or up to discharge, whichever occurs earlier with the 3D-Confusion Assessment Method (3D-CAM) or CAM-Intensive Care Unit. Secondary endpoints include a composite neurological outcome of POD and overt stroke, postoperative neurocognitive disorders, major morbidity and mortality. Associations between neurologic outcomes, neurobiomarkers and genetic variation will be explored.A total of 500 participants is required to achieve 90% power to find a statistically significant effect of the area under the curve MAP&lt;lower limit of CA (LLA) on the risk of POD at the 5% level. This includes adjustment for potential confounders and for the inability to determine the LLA.Ethics and dissemination Ethical approval has been obtained from all responsible ethics committees (Swiss lead ethics committee EKNZ 2022-01457 and Health Research Authority and Health and Care Research Wales, UK, REC 23/SW/0076). Results will be disseminated at national and international conferences and published in peer-reviewed journals.Trial registration number NCT05595954.",
                        "identifiers": [
                          "10.1136/bmjopen-2025-115288",
                          "2044-6055",
                          "https://doaj.org/article/5c541148d88947c2a150b0d5a3ae4ff2"
                        ]
                      },
                      {
                        "doi": "10.1136/bmjopen-2025-111860",
                        "url": "https://doaj.org/article/9b8a6c083212461e95e275559767a72d",
                        "date": "2026-02-01T00:00:00Z",
                        "sets": [
                          "TENDOk1lZGljaW5l"
                        ],
                        "type": "article",
                        "issns": [
                          "2044-6055"
                        ],
                        "title": "Start4All protocol for a Bayesian cost-effectiveness model of tuberculosis screening and diagnosis in seven high burden low-income and middle-income countries",
                        "deleted": false,
                        "sources": [
                          "BMJ Open, Vol 16, Iss 2 (2026)"
                        ],
                        "creators": [
                          "Marc Yves Romain Henrion",
                          "Tushar Garg",
                          "Stephen John",
                          "Shahriar Ahmed",
                          "Sayera Banu",
                          "Tanjina Rahman",
                          "Jacob Creswell",
                          "Melissa Sander"
                        ],
                        "recordId": "9b8a6c083212461e95e275559767a72d",
                        "subjects": [
                          "Medicine",
                          "R"
                        ],
                        "datestamp": "2026-07-31T00:21:07Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "BMJ Publishing Group",
                        "relations": [
                          "https://bmjopen.bmj.com/content/16/2/e111860.full",
                          "https://doaj.org/toc/2044-6055"
                        ],
                        "identifier": "oai:doaj.org/article:9b8a6c083212461e95e275559767a72d",
                        "description": "Introduction High costs of screening and diagnostic tests remain a major barrier to timely tuberculosis (TB) identification in resource-limited settings. Evidence on the cost-effectiveness of scalable screening algorithms is limited. Start4All is a research project aimed at developing and evaluating algorithmic approaches to TB screening and diagnosis, with the goal of optimising technical and allocative efficiency when expanding diagnostic coverage to primary healthcare and community settings.Methods and analysis Five screening and diagnostic tests will be evaluated: a capillary blood-based assay (C-reactive protein (CRP)), sputum-based rapid molecular tests (PCR; individual and pooled Xpert MTB/RIF Ultra assay (Xpert Ultra, Cepheid®, California, USA)), a lateral-flow urine-based test for lipoarabinomannan (LF-LAM), and digital chest X-rays with artificial intelligence-based computer-aided detection (CXR-CAD). A microbiological reference standard of positive culture using the mycobacteria growth indicator tube will be used to confirm TB disease.We will compare the cost and effectiveness of concurrent and sequential positive serial combinations (screening algorithms) of CRP, CXR-CAD, LF-LAM, individual and pooled Xpert Ultra. Diagnostic performance will be estimated using sensitivity, specificity, predictive values and proportions of positive results, with Bayesian inference used to derive these estimates. The analysis will include adults (15 years and older) only and will be stratified by HIV status and level of care, including facility and community-based case finding. Effectiveness will be assessed based on the number of people with TB detected. Cost analysis will be conducted from the provider perspective, incorporating commodity and implementation costs. A decision tree model will be developed to assess the cost per number of persons with confirmed TB detected across all countries. Probabilistic sensitivity analysis will be conducted to account for uncertainty in model parameters, incorporating willingness-to-pay and willingness-to-accept thresholds.Ethics and dissemination WHO ethical review committee approval ERC.0003921. Data will be available on reasonable request to the principal investigator of the consortium.Trial registration number NCT05845112.",
                        "identifiers": [
                          "10.1136/bmjopen-2025-111860",
                          "2044-6055",
                          "https://doaj.org/article/9b8a6c083212461e95e275559767a72d"
                        ]
                      },
                      {
                        "doi": "10.19041/APSTRACT/2023/1/1",
                        "url": "https://doaj.org/article/edb40134422541d098d745440f2622fb",
                        "date": "2023-06-01T00:00:00Z",
                        "sets": [
                          "TENDOkFncmljdWx0dXJl",
                          "TENDOlJlZ2lvbmFsIHBsYW5uaW5n"
                        ],
                        "type": "article",
                        "issns": [
                          "1789-221X",
                          "1789-7874"
                        ],
                        "title": "PERCEPTIONS, PROFITABILITY AND DETERMINANTS OF GRANULATED CASSAVA PACKAGING IN KUMASI METROPOLIS, GHANA",
                        "deleted": false,
                        "sources": [
                          "Apstract: Applied Studies in Agribusiness and Commerce, Vol 17, Iss 1 (2023)"
                        ],
                        "creators": [
                          "Enoch Kwame Tham-Agyekum",
                          "Fred Nimoh",
                          "Dora Boakye",
                          "Abednego Yeboah",
                          "Umar Abdul Baqi Abubakar"
                        ],
                        "recordId": "edb40134422541d098d745440f2622fb",
                        "subjects": [
                          "Gari",
                          "Packaging",
                          "Gari Sellers",
                          "Granulated Cassava",
                          "Perception",
                          "Profitability",
                          "Agriculture",
                          "S"
                        ],
                        "datestamp": "2026-07-31T00:19:33Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "University of Debrecen",
                        "relations": [
                          "http://localhost:9400/apstract/article/view/10791",
                          "https://doaj.org/toc/1789-221X",
                          "https://doaj.org/toc/1789-7874"
                        ],
                        "identifier": "oai:doaj.org/article:edb40134422541d098d745440f2622fb",
                        "description": "Packaging does not only protect a product but also provides directions for using the product, as well as relevant information about its content and nutritional value. This study was undertaken to assess Granulated Cassava (Gari) sellers’ perception, profitability and determinants of packaging in Ashanti Region. The study area was purposively selected because of the active participation and contribution of marketing activities. A structured questionnaire was administered in the form of interview to obtain primary data from the respondents. Data was generated using binary and multinomial logit regression model and Garret ranking technique. The results showed that there is 0.11% difference in the gross margin of both ventures which is also statistically significant at 1%. Years of education, legal requirement, and durability of the packaging material and cost of packaging material were the significant factors that influence sellers’ choice of packaging. Lack of technical know-how, cost of capital equipment and lack of knowledge on packaging equipment and/or material were the most limiting constraints affecting Gari packaging. The study recommends that investors should invest in the Gari packaging business since it has a relatively higher rate of returns as compared to the unpackaged one.",
                        "identifiers": [
                          "10.19041/APSTRACT/2023/1/1",
                          "1789-221X",
                          "1789-7874",
                          "https://doaj.org/article/edb40134422541d098d745440f2622fb"
                        ]
                      },
                      {
                        "doi": "10.19041/APSTRACT/2025/1/1",
                        "url": "https://doaj.org/article/c594eab4a9994dad88599954598eb3c4",
                        "date": "2025-06-01T00:00:00Z",
                        "sets": [
                          "TENDOkFncmljdWx0dXJl",
                          "TENDOlJlZ2lvbmFsIHBsYW5uaW5n"
                        ],
                        "type": "article",
                        "issns": [
                          "1789-221X",
                          "1789-7874"
                        ],
                        "title": "FACTORS INFLUENCING FEMALE YOUTH PARTICIPATION IN AGRICULTURAL LIVELIHOOD GENERATING ACTIVITIES FOR SELF-CARE IN GWAGWALADA AREA COUNCIL, ABUJA, NIGERIA",
                        "deleted": false,
                        "sources": [
                          "Apstract: Applied Studies in Agribusiness and Commerce, Vol 19, Iss 1 (2025)"
                        ],
                        "creators": [
                          "Dutse Fidelis",
                          "Abbas Shehu",
                          "Hannatu Yohanna Michael",
                          "Danladi Ezrah Bako"
                        ],
                        "recordId": "c594eab4a9994dad88599954598eb3c4",
                        "subjects": [
                          "Youth participation",
                          "Agricultural livelihood",
                          "Income generating activities",
                          "Self-care",
                          "Perceived contribution",
                          "Agriculture",
                          "S",
                          "Regional planning"
                        ],
                        "datestamp": "2026-07-31T00:19:31Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "University of Debrecen",
                        "relations": [
                          "http://localhost:9400/apstract/article/view/15369",
                          "https://doaj.org/toc/1789-221X",
                          "https://doaj.org/toc/1789-7874"
                        ],
                        "identifier": "oai:doaj.org/article:c594eab4a9994dad88599954598eb3c4",
                        "description": "This study examines female youth participation in agricultural livelihood generating activities for self-care in Gwagwalada Area Council, Abuja. The objectives were to: examine the extent of female youth participation in agricultural livelihood generating activities and the income generated, determine the levels of female youth self-care responsibilities and perceived contribution of participation in agricultural livelihood activities on their wellbeing, determine factors influencing female youth participation in agricultural livelihood activities in the study area. A multistage sampling procedure was used to select 133 female youths from 13 registered youth associations. Structured questionnaire was used to collect data while descriptive statistics and Logit regression model were used to analyze the data. The results showed that 30.1% of the respondents were engaged in crop production and generated an average income of ₦420,093.02 while only 3.0% were engaged in crop produce processing and generated ₦29,250.74. Also, almost half (47.4) of them spent money to take care of themselves of between 3-4 self-care responsibilities and about 41.5 spent an average of 130,078.95 on food per day. It also showed The logit regression results indicated that factors influencing female youth participation in agricultural livelihood generating activities include age, educational status, household size, income, occupation, and distance. While the study indicates that a significant portion of female youths is engaged in crop and poultry production, their overall participation in agricultural activities is limited. The study provides critical insights into the potential of agriculture as a viable solution to youth unemployment and is an instrument of female vulnerability reduction in Nigeria. The study recommends implementing policies to improve land access for female youths, including land reform initiatives that prioritize youth ownership and leasing options. Additionally, it suggests exploring strategies to reduce production costs through input subsidies, partnerships with agricultural suppliers, and community-based resource-sharing initiatives.",
                        "identifiers": [
                          "10.19041/APSTRACT/2025/1/1",
                          "1789-221X",
                          "1789-7874",
                          "https://doaj.org/article/c594eab4a9994dad88599954598eb3c4"
                        ]
                      },
                      {
                        "doi": "10.19041/APSTRACT/2025/1/2",
                        "url": "https://doaj.org/article/ff727ba209104a23be3c4a963f4dc9e5",
                        "date": "2025-06-01T00:00:00Z",
                        "sets": [
                          "TENDOkFncmljdWx0dXJl",
                          "TENDOlJlZ2lvbmFsIHBsYW5uaW5n"
                        ],
                        "type": "article",
                        "issns": [
                          "1789-221X",
                          "1789-7874"
                        ],
                        "title": "THE ROLE AND IMPACT OF DIGITAL TRANSFORMATION ON THE DEVELOPMENT OF SMALL AND MEDIUM-SIZED ENTERPRISES IN HAJDÚ-BIHAR COUNTY",
                        "deleted": false,
                        "sources": [
                          "Apstract: Applied Studies in Agribusiness and Commerce, Vol 19, Iss 1 (2025)"
                        ],
                        "creators": [
                          "Mihály Bogdán",
                          "Péter Popovics"
                        ],
                        "recordId": "ff727ba209104a23be3c4a963f4dc9e5",
                        "subjects": [
                          "best practices",
                          "digital best practices",
                          "digitalization",
                          "artificial intelligence",
                          "efficiency",
                          "Agriculture",
                          "S",
                          "Regional planning"
                        ],
                        "datestamp": "2026-07-31T00:19:29Z",
                        "languages": [
                          "EN"
                        ],
                        "publisher": "University of Debrecen",
                        "relations": [
                          "http://localhost:9400/apstract/article/view/15422",
                          "https://doaj.org/toc/1789-221X",
                          "https://doaj.org/toc/1789-7874"
                        ],
                        "identifier": "oai:doaj.org/article:ff727ba209104a23be3c4a963f4dc9e5",
                        "description": "In our survey-based research, assessed the opinions of 39 small and medium-sized enterprise (SME) leaders in Hajdú-Bihar County on digitalization, how they evaluate their employees' digital skills, what digital best practices they apply, and how familiar they are with current trends in digital best practices. In the literature review, we touch on the concepts and significance of digitalization and digital transformation, the characteristics and types of best practices, benchmarking as a tool for identifying them, and the steps involved in their implementation. We introduced five currently popular digital best practices: optical character recognition, homomorphic encryption, robotic process automation, intelligent process automation, and blockchain technology. The advantages and impact of these practices on corporate efficiency are highlighted. Based on the results, we reached the following conclusions:\nThe findings show that most Hungarian companies view digitalization as an opportunity, but there are deficiencies in strategic planning and commitment. Although leaders theoretically support technological progress, 93% of companies do not have a developed digital strategy, and leaders also rate employee engagement as low. The resources allocated for digitalization investments are also low, with most companies spending only between 0-10 million HUF. The application of artificial intelligence (AI) technologies is still in its early stages, though there are positive examples. Dissatisfaction is evident regarding employees' digital competencies, particularly in problem-solving and data security. The lack of knowledge of modern digital technologies also hinders innovation. Companies' digital maturity is low, with most having only taken initial steps in this area. Often, the perceived digital intensity of the industry does not reflect reality, which can hinder development.",
                        "identifiers": [
                          "10.19041/APSTRACT/2025/1/2",
                          "1789-221X",
                          "1789-7874",
                          "https://doaj.org/article/ff727ba209104a23be3c4a963f4dc9e5"
                        ]
                      },
                      {
                        "doi": "10.19041/APSTRACT/2025/1/3",
                        "url": "https://doaj.org/article/9ac06fca05ff4cec8b3908112bcc935b",
                        "date": "2025-06-01T00:00:00Z",
                        "sets": [
                          "TENDOkFncmljdWx0dXJl",
                          "TENDOlJlZ2lvbmFsIHBsYW5uaW5n"
                        ],
                        "type": "article",
                        "issns": [
                          "1789-221X",
                          "1789-7874"
                        ],
                        "title": "WHAT DRIVES FEMALE FARMERS’ PARTICIPATION IN OFF-FARM ACTIVITIES? THE CASE OF RURAL NIGERIA",
                        "deleted": false,
                        "sources": [
                          "Apstract: Applied Studies in Agribusiness and Commerce, Vol 19, Iss 1 (2025)"
                        ],
                        "creators": [
                          "Abbas Shehu",
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                        "title": "Spontaneous Pathologic Splenic Rupture in a Patient with <i>Plasmodium falciparum</i> Infection, First Case Reported in Israel",
                        "authors": [
                          {
                            "name": "Yves Weinberg",
                            "orcid": null,
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                        "abstract": "Travelers exposed to malaria may develop severe disease and complications. A less well-known complication is spontaneous pathologic splenic rupture, which is still under-reported and has never been reported in Israel. In this paper, we report a 23 years old healthy young man presenting in the emergency department, two weeks after coming back from Sierra Leone, with intermittent fever, mild tachycardia and mild left upper quadrant abdominal pain. The patient was diagnosed with <i>Plasmodium falciparum</i> infection and developed rapidly after hospital admission spleen rupture. He was managed conservatively at first but ultimately underwent splenectomy after being hemodynamically unstable. In the recovery period, the patient developed acute respiratory distress syndrome and was reintubated. A high level of suspicion is recommended in every malaria patient presenting with left upper quadrant abdominal pain, even if minimal. Ultrasonography availability in the internal medicine department may be a critical diagnostic tool, especially in non-endemic areas.",
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                          "malaria",
                          "spleen rupture",
                          "<i>Plasmodium falciparum</i>"
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                            "id": "10.3390/idr12030022",
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                      {
                        "doi": "10.1128/mSphere.00937-20",
                        "year": 2020,
                        "links": [
                          {
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                        "month": 10,
                        "title": "Genetic Markers of Adaptation of <named-content content-type=\"genus-species\">Plasmodium falciparum</named-content> to Transmission by American Vectors Identified in the Genomes of Parasites from Haiti and South America",
                        "authors": [
                          {
                            "name": "Massimiliano S. Tagliamonte",
                            "orcid": null,
                            "affiliation": "Department of Infectious Diseases and Immunology, College of Veterinary Medicine, University of Florida, Gainesville, Florida, USA"
                          },
                          {
                            "name": "Charles A. Yowell",
                            "orcid": null,
                            "affiliation": "Department of Infectious Diseases and Immunology, College of Veterinary Medicine, University of Florida, Gainesville, Florida, USA"
                          },
                          {
                            "name": "Maha A. Elbadry",
                            "orcid": null,
                            "affiliation": "Department of Environmental and Global Health, College of Public Health and Health Professions, University of Florida, Gainesville, Florida, USA"
                          },
                          {
                            "name": "Jacques Boncy",
                            "orcid": null,
                            "affiliation": "Laboratoire National de Santé Publique, Ministère de la Santé Publique et de la Population, Port-au-Prince, Haiti"
                          },
                          {
                            "name": "Christian P. Raccurt",
                            "orcid": null,
                            "affiliation": "Department of Tropical Medicine and Infectious Diseases, Faculty of Medicine, University of Quisqueya, Port-au-Prince, Haiti"
                          },
                          {
                            "name": "Bernard A. Okech",
                            "orcid": null,
                            "affiliation": "Department of Environmental and Global Health, College of Public Health and Health Professions, University of Florida, Gainesville, Florida, USA"
                          },
                          {
                            "name": "Erica M. Goss",
                            "orcid": null,
                            "affiliation": "Department of Plant Pathology, College of Agricultural and Life Sciences, University of Florida, Gainesville, Florida, USA"
                          },
                          {
                            "name": "Marco Salemi",
                            "orcid": null,
                            "affiliation": "Department of Pathology, Immunology, and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, Florida, USA"
                          }
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                          "issns": [
                            "2379-5042"
                          ],
                          "title": "mSphere",
                          "number": "5",
                          "volume": "5",
                          "country": "US",
                          "language": [
                            "EN"
                          ],
                          "publisher": "American Society for Microbiology"
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                        "abstract": "ABSTRACT The malaria parasite, Plasmodium falciparum, was introduced into Hispaniola and other regions of the Americas through the slave trade spanning the 16th through the 19th centuries. During this period, more than 12 million Africans were brought across the Atlantic to the Caribbean and other regions of the Americas. Since malaria is holoendemic in West Africa, a substantial percentage of these individuals carried the parasite. St. Domingue on Hispaniola, now modern-day Haiti, was a major port of disembarkation, and malaria is still actively transmitted there. We undertook a detailed study of the phylogenetics of the Haitian parasites and those from Colombia and Peru utilizing whole-genome sequencing. Principal-component and phylogenetic analyses, based upon single nucleotide polymorphisms (SNPs) in protein coding regions, indicate that, despite the potential for millions of introductions from Africa, the Haitian parasites share an ancestral relationship within a well-supported monophyletic clade with parasites from South America, while belonging to a distinct lineage. This result, in stark contrast to the historical record of parasite introductions, is best explained by a severe population bottleneck experienced by the parasites introduced into the Americas. Here, evidence is presented for targeted selection of rare African alleles in genes which are expressed in the mosquito stages of the parasite’s life cycle. These genetic markers support the hypothesis that the severe population bottleneck was caused by the required adaptation of the parasite to transmission by new definitive hosts among the Anopheles (Nyssorhynchus) spp. found in the Caribbean and South America. IMPORTANCE Historical data suggest that millions of P. falciparum parasite lineages were introduced into the Americas during the trans-Atlantic slave trade, which would suggest a paraphyletic origin of the extant isolates in the Western Hemisphere. Our analyses of whole-genome variants show that the American parasites belong to a well-supported monophyletic clade. We hypothesize that the required adaptation to American vectors created a severe bottleneck, reducing the effective introduction to a few lineages. In support of this hypothesis, we discovered genes expressed in the mosquito stages of the life cycle that have alleles with multiple, high-frequency or fixed, nonsynonymous mutations in the American populations which are rarely found in African isolates. These alleles appear to be in gene products critical for transmission through the anopheline vector. Thus, these results may inform efforts to develop novel transmission-blocking vaccines by identifying parasite proteins functionally interacting with the vector that are important for successful transmission. Further, to the best of our knowledge, these are the first whole-genome data available from Haitian P. falciparum isolates. Defining the genome of these parasites provides genetic markers useful for mapping parasite populations and monitoring parasite movements/introductions.",
                        "keywords": [
                          "Haiti",
                          "Plasmodium falciparum",
                          "adaptive mutations",
                          "evolutionary biology",
                          "malaria",
                          "phylogenetics"
                        ],
                        "subjects": [
                          {
                            "code": "QR1-502",
                            "term": "Microbiology",
                            "scheme": "LCC"
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                        "articleId": "0000e17190e246e6b2621356f3ffcae1",
                        "createdAt": "2021-11-15T15:30:41Z",
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                        "updatedAt": "2025-08-19T18:08:29Z",
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                        "doi": "10.4103/jfmpc.jfmpc_1169_19",
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                            "url": "http://www.jfmpc.com/article.asp?issn=2249-4863;year=2020;volume=9;issue=5;spage=2420;epage=2425;aulast=Chowdhury",
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                        "month": null,
                        "title": "A comparative study on knowledge and practice against malaria among Accredited Social Health Activists (ASHAs) of low and high endemic regions of Tripura, Northeast India",
                        "authors": [
                          {
                            "name": "Purvita Chowdhury",
                            "orcid": null,
                            "affiliation": null
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                          {
                            "name": "Subrata Baidya",
                            "orcid": null,
                            "affiliation": null
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                          {
                            "name": "Debosmita Paul",
                            "orcid": null,
                            "affiliation": null
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                          {
                            "name": "Biraj Kalita",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Gunendra Saikia",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Sanjoy Karmakar",
                            "orcid": null,
                            "affiliation": null
                          },
                          {
                            "name": "Sanghita Paul",
                            "orcid": null,
                            "affiliation": null
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                            "2249-4863",
                            "2278-7135"
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                          "title": "Journal of Family Medicine and Primary Care",
                          "number": "5",
                          "volume": "9",
                          "country": "IN",
                          "language": [
                            "EN"
                          ],
                          "publisher": "Wolters Kluwer Medknow Publications"
                        },
                        "abstract": "Introduction: This study was conducted to compare and evaluate the knowledge as well as the practice of community health volunteers, Accredited social health activists (ASHAs) in low and high malaria-endemic regions of Tripura, Northeast India. Materials and Methods: In this descriptive cross-sectional study, all ASHAs working in the randomly selected two blocks of each low and high malaria-endemic areas were included in the study. While ASHAs with less than 1-year experience were excluded from the study. The ASHAs were interviewed and information was gathered on knowledge and practice against malaria management. Chi-square test was used to identify differences in responses among the ASHAs. Results: Significant differences in knowledge of mixed malarial infection (P < 0.001) and early symptoms of malaria (P = 0.005) were observed when responses of high malaria-endemic ASHAs (HMEA) were compared to low endemic ASHAs (LMEA). With respect to malaria testing skills, 83.16% HMEA affirmed that they could perform Rapid diagnostic (RD) kit tests as opposed to 57.24% LMEA, (P < 0.001). Disturbingly only two HMEA could correctly describe the duration for Pf and Pv treatment. Conclusion: The study identifies major lacunae in the balance of knowledge and practices of ASHAs in both study areas of Tripura. Therefore,for a successful projected malaria elimination program, community-level ASHA volunteers need to have accurate malaria knowledge and management approaches irrespective of the endemicity. This study will help to understand the operational constraints and plan educational training for ASHA volunteers in malaria-endemic regions.",
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                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                      {
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                        "fullName": "Thomas SJ",
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                        "lastName": "Thomas",
                        "firstName": "Stephen J",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
                        ],
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                      },
                      {
                        "orcid": null,
                        "fullName": "Kitchin N",
                        "initials": "N",
                        "lastName": "Kitchin",
                        "firstName": "Nicholas",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
                        ],
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                      },
                      {
                        "orcid": null,
                        "fullName": "Absalon J",
                        "initials": "J",
                        "lastName": "Absalon",
                        "firstName": "Judith",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                        "orcid": null,
                        "fullName": "Gurtman A",
                        "initials": "A",
                        "lastName": "Gurtman",
                        "firstName": "Alejandra",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                      {
                        "orcid": "0000-0002-0805-2193",
                        "fullName": "Lockhart S",
                        "initials": "S",
                        "lastName": "Lockhart",
                        "firstName": "Stephen",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                        "fullName": "Perez JL",
                        "initials": "JL",
                        "lastName": "Perez",
                        "firstName": "John L",
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                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                        "fullName": "Pérez Marc G",
                        "initials": "G",
                        "lastName": "Pérez Marc",
                        "firstName": "Gonzalo",
                        "affiliations": [
                          "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)."
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                    "abstract": "<h4>Background</h4>Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the resulting coronavirus disease 2019 (Covid-19) have afflicted tens of millions of people in a worldwide pandemic. Safe and effective vaccines are needed urgently.<h4>Methods</h4>In an ongoing multinational, placebo-controlled, observer-blinded, pivotal efficacy trial, we randomly assigned persons 16 years of age or older in a 1:1 ratio to receive two doses, 21 days apart, of either placebo or the BNT162b2 vaccine candidate (30 μg per dose). BNT162b2 is a lipid nanoparticle-formulated, nucleoside-modified RNA vaccine that encodes a prefusion stabilized, membrane-anchored SARS-CoV-2 full-length spike protein. The primary end points were efficacy of the vaccine against laboratory-confirmed Covid-19 and safety.<h4>Results</h4>A total of 43,548 participants underwent randomization, of whom 43,448 received injections: 21,720 with BNT162b2 and 21,728 with placebo. There were 8 cases of Covid-19 with onset at least 7 days after the second dose among participants assigned to receive BNT162b2 and 162 cases among those assigned to placebo; BNT162b2 was 95% effective in preventing Covid-19 (95% credible interval, 90.3 to 97.6). Similar vaccine efficacy (generally 90 to 100%) was observed across subgroups defined by age, sex, race, ethnicity, baseline body-mass index, and the presence of coexisting conditions. Among 10 cases of severe Covid-19 with onset after the first dose, 9 occurred in placebo recipients and 1 in a BNT162b2 recipient. The safety profile of BNT162b2 was characterized by short-term, mild-to-moderate pain at the injection site, fatigue, and headache. The incidence of serious adverse events was low and was similar in the vaccine and placebo groups.<h4>Conclusions</h4>A two-dose regimen of BNT162b2 conferred 95% protection against Covid-19 in persons 16 years of age or older. Safety over a median of 2 months was similar to that of other viral vaccines. (Funded by BioNTech and Pfizer; ClinicalTrials.gov number, NCT04368728.).",
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                    "content": "<!DOCTYPE book-part-wrapper PUBLIC \"-//NLM//DTD BITS Book Interchange DTD v2.0 20151225//EN\" \"BITS-book2.dtd\"><book-part-wrapper xmlns:ali=\"http://www.niso.org/schemas/ali/1.0/\" xmlns:mml=\"http://www.w3.org/1998/Math/MathML\" xmlns:xi=\"http://www.w3.org/2001/XInclude\" xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"toc\" id=\"toc\" dtd-version=\"2.0\"><book-meta><?get-external-navigation-xml related?><?pdfbuild-skip-alt-title-as-rhead?><book-id book-id-type=\"pmcid\">gene</book-id><book-title-group><book-title>GeneReviews<sup>&#x000ae;</sup></book-title></book-title-group><contrib-group><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Adam</surname><given-names>Margaret P</given-names></name><role>Editor-in-Chief</role></contrib><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Bick</surname><given-names>Sarah</given-names></name><role>Medical Editor</role></contrib><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda M</given-names></name><role>Medical Editor</role></contrib><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Pagon</surname><given-names>Roberta A</given-names></name><role>Medical Editor</role></contrib><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Wallace</surname><given-names>Stephanie E</given-names></name><role>Medical Editor</role></contrib><contrib contrib-type=\"editor\"><name name-style=\"western\"><surname>Amemiya</surname><given-names>Anne</given-names></name><role>Genetic Counseling Editor</role></contrib></contrib-group><pub-date date-type=\"pubr\" publication-format=\"electronic\"><year>1993</year></pub-date><pub-date date-type=\"pubr\" publication-format=\"electronic\"><year>2026</year></pub-date><issn>2372-0697</issn><publisher><publisher-name>University of Washington, Seattle</publisher-name><publisher-loc>Seattle (WA)</publisher-loc></publisher><permissions><copyright-statement>Copyright &#x000a9; 1993-2026, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved. Test.</copyright-statement><license license-type=\"open-access\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/NBK138602/\"><license-p>GeneReviews&#x000ae; chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (<ext-link ext-link-type=\"uri\" xlink:href=\"https://www.genereviews.org/\">https://www.genereviews.org</ext-link>) and copyright (&#x000a9; 1993-2026 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/\">GeneReviews&#x000ae; Copyright Notice and Usage Disclaimer</ext-link>. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.</license-p><license-p>For more information, see the <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/\">GeneReviews&#x000ae; Copyright Notice and Usage Disclaimer</ext-link>.</license-p><license-p>For questions regarding permissions or whether a specified use is allowed, contact: addmast@wu.edu</license-p></license></permissions><abstract><p><italic toggle=\"yes\">GeneReviews</italic>, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in <italic toggle=\"yes\">GeneReviews</italic> is written by one or more experts on the specific condition or disease and goes through a rigorous editing and <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Peer_Review\">peer review</ext-link> process before being published online.</p><p><italic toggle=\"yes\">GeneReviews</italic> currently comprises more than 900 chapters and has more than 15 million users annually.</p><p>The two general formats for <italic toggle=\"yes\">GeneReviews</italic> are: chapters focused on a single gene or phenotype (~95%) and overviews summarizing causes of common genetic conditions (e.g., genetic hearing loss, Alzheimer disease) (~5%).</p><p>To ensure continuing relevant and medically actionable content, each <italic toggle=\"yes\">GeneReviews</italic> chapter is <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Updates\">updated</ext-link> every four to five years (or as needed) by the author(s) in a formal and comprehensive process curated by the <italic toggle=\"yes\">GeneReviews</italic>\n<ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRpersonnel/\">editors</ext-link>. Additional <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/GRrevprocesses/#GRrevprocesses.Revisions\">revisions</ext-link> may occur more frequently as needed to reflect significant changes in clinically relevant information.</p><p>Genetic counseling and testing terms used in <italic toggle=\"yes\">GeneReviews</italic> are hyperlinked to definitions in the <italic toggle=\"yes\">GeneReviews</italic>\n<ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/glossary/\">Glossary</ext-link>. <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/resource_mats/\">Resource Materials</ext-link> include additional information on key genetics concepts used in <italic toggle=\"yes\">GeneReviews</italic>.</p><p><italic toggle=\"yes\">GeneReviews</italic> are indexed in PubMed. Additionally, the primary author (first or last author) of a <italic toggle=\"yes\">GeneReview </italic>may receive MOC Part 4 credit from the <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.abmgg.org/continuing-certification/improvement-in-medical-professional-practice/\">American Board of Medical Genetics and Genomics</ext-link>.&#x000a0;See <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/NBK138603/\">For Current/Prospective Authors</ext-link> for more information.</p><p>Note: For a variety of reasons, GeneReviews occasionally removes chapters from the active website. Click <ext-link ext-link-type=\"uri\" xlink:href=\"https://www.ncbi.nlm.nih.gov/books/n/gene/archived_chapters/\">here</ext-link> for a list of retired chapters.</p></abstract><custom-meta-group><custom-meta><meta-name>books-source-type</meta-name><meta-value>Database</meta-value></custom-meta></custom-meta-group></book-meta><toc><?nbk-version 1?><?alpha-index-location?><?alpha-index-anchor IX-1?><toc-entry id=\"toc_mdel1q21_1\"><title>1q21.1 Recurrent Deletion</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Guo</surname><given-names>Rose</given-names></name><degrees>DO</degrees><aff>Cone Health<break/>Greensboro, North Carolina</aff><email>rose.guo@conehealth.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haldeman-Englert</surname><given-names>Chad R</given-names></name><degrees>MD</degrees><aff>Mission Fullerton Genetics Center<break/>Asheville, North Carolina</aff><email>chad.haldemanenglert@hcahealthcare.com</email></contrib></contrib-group><?date-created 20110224?><?date-updated 20240201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel1q21_1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\" object-id=\"mdel1q21_1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel1q21_1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\" object-id=\"mdel1q21_1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel1q21_1.Clinical_Characteristics\"><title>Clinical 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object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel1q21_1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\" object-id=\"mdel1q21_1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel1q21_1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\" object-id=\"mdel1q21_1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel1q21_1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel1q21_1\" document-type=\"chapter\" object-id=\"mdel1q21_1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-3?><toc-entry id=\"toc_hibch-def\"><title>3-Hydroxyisobutyryl-CoA Hydrolase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: HIBCH Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abdenur</surname><given-names>Jose</given-names></name><degrees>MD</degrees><email>jabdenur@choc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barrick</surname><given-names>Rebekah</given-names></name><degrees>MS, CGC</degrees><email>rebekah.barrick@choc.org</email></contrib></contrib-group><?date-created 20251120?><?date-revised 20260212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hibch-def.Summary\"><title>Summary</title><nav-pointer 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Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\" object-id=\"hibch-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hibch-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\" object-id=\"hibch-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hibch-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\" object-id=\"hibch-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hibch-def.Genetic_Counseling\"><title>Genetic 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nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\" object-id=\"hibch-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hibch-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hibch-def\" document-type=\"chapter\" object-id=\"hibch-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gr_3ms\"><title>3-M Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Three M Syndrome, 3M Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Akilapa</surname><given-names>Rhoda</given-names></name><degrees>BMBS, BMedSci</degrees><email>rhoda.akilapa@gstt.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Irving</surname><given-names>Melita</given-names></name><degrees>MBBS, MD(Res)</degrees><email>melita.irving@gstt.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Holder-Espinasse</surname><given-names>Muriel</given-names></name><degrees>MD, PhD</degrees><email>muriel.holder@gstt.nhs.uk</email></contrib></contrib-group><?date-created 20020325?><?date-updated 20250227?><?date-revised 20181024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gr_3ms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Genetically_Related_Allelic_Disor\" 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object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_3ms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_3ms\" document-type=\"chapter\" object-id=\"gr_3ms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mdel3q29\"><title>3q29 Recurrent Deletion</title><subtitle content-type=\"alt-title\">Synonyms: 3q29 Deletion Syndrome, 3q29 Microdeletion Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mulle</surname><given-names>Jennifer Gladys</given-names></name><degrees>MHS, PhD</degrees><email>jennifer.mulle@rutgers.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gambello</surname><given-names>Michael J</given-names></name><degrees>MD, PhD</degrees><email>michael.j.gambello@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sanchez Russo</surname><given-names>Rossana</given-names></name><degrees>MD</degrees><email>rossana.sanchez@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Murphy</surname><given-names>Melissa M</given-names></name><degrees>PhD</degrees><email>melissa.murphy@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burrell</surname><given-names>T Lindsey</given-names></name><degrees>PhD</degrees><email>lindsey.burrell@choa.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klaiman</surname><given-names>Cheryl</given-names></name><degrees>PhD</degrees><email>cheryl.klaiman@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>White</surname><given-names>Stormi</given-names></name><degrees>PsyD</degrees><email>stormi.pulver.white@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saulnier</surname><given-names>Celine A</given-names></name><degrees>PhD</degrees><email>celine@nacsatl.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Walker</surname><given-names>Elaine F</given-names></name><degrees>PhD</degrees><email>psyefw@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cubells</surname><given-names>Joseph F</given-names></name><degrees>MD, PhD</degrees><email>jcubell@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shultz</surname><given-names>Sarah</given-names></name><degrees>PhD</degrees><email>sarah.shultz@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Li</surname><given-names>Longchuan</given-names></name><degrees>PhD</degrees><email>longchuan.li@emory.edu</email></contrib></contrib-group><?date-created 20160922?><?date-updated 20210701?><?date-revised 20171019?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel3q29.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel3q29.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel3q29\" document-type=\"chapter\" object-id=\"mdel3q29.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-7?><toc-entry id=\"toc_dup7q11_23\"><title>7q11.23 Duplication Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mervis</surname><given-names>Carolyn B</given-names></name><degrees>PhD</degrees><aff>University of Louisville<break/>Louisville, Kentucky</aff><email>cbmervis@louisville.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morris</surname><given-names>Colleen A</given-names></name><degrees>MD</degrees><aff>University of Nevada School of Medicine<break/>Las Vegas, Nevada</aff><email>colleen.morris@unlv.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein-Tasman</surname><given-names>Bonita P</given-names></name><degrees>PhD</degrees><aff>University of Wisconsin-Milwaukee<break/>Milwaukee, Wisconsin</aff><email>bklein@uwm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Velleman</surname><given-names>Shelley L</given-names></name><degrees>PhD</degrees><aff>University of Vermont<break/>Burlington, Vermont</aff><email>shelley.velleman@med.uvm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Osborne</surname><given-names>Lucy R</given-names></name><degrees>PhD</degrees><aff>University of Toronto<break/>Toronto, Ontario, Canada</aff><email>lucy.osborne@utoronto.ca</email></contrib></contrib-group><?date-created 20151125?><?date-updated 20210325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dup7q11_23.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup7q11_23.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup7q11_23\" document-type=\"chapter\" object-id=\"dup7q11_23.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-15?><toc-entry id=\"toc_mdel15q13_3\"><title>15q13.3 Recurrent Deletion</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Bon</surname><given-names>Bregje WM</given-names></name><degrees>MD, PhD</degrees><email>bregje.vanbon@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mefford</surname><given-names>Heather C</given-names></name><degrees>MD, PhD</degrees><email>heather.mefford@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaaf</surname><given-names>Christian P</given-names></name><degrees>MD, PhD</degrees><email>christian.schaaf@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20101223?><?date-updated 20221117?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel15q13_3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Genetically_Related_Disorder\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Genetically_Related_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel15q13_3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel15q13_3\" document-type=\"chapter\" object-id=\"mdel15q13_3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-16?><toc-entry id=\"toc_del16p11_2\"><title>16p11.2 Recurrent Deletion</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Cora M</given-names></name><degrees>PhD</degrees><email>cmtaylor1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Rebecca</given-names></name><degrees>MS, CGC</degrees><email>rsmith6@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lehman</surname><given-names>Christopher</given-names></name><degrees>MS</degrees><email>cdlehman@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mitchel</surname><given-names>Marissa W</given-names></name><degrees>MS, CCC-SLP</degrees><email>mwmitchel@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Singer</surname><given-names>Kaitlyn</given-names></name><degrees>MS</degrees><email>kesinger@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weaver</surname><given-names>W Curtis</given-names></name><degrees>BS</degrees><email>wcweaver@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Wendy</given-names></name><degrees>MD, PhD, FACMG</degrees><email>wkc15@columbia.edu</email></contrib></contrib-group><?date-created 20090922?><?date-updated 20211028?><?date-revised 20111027?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_del16p11_2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_del16p11_2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"del16p11_2\" document-type=\"chapter\" object-id=\"del16p11_2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mdel16p12_2\"><title>16p12.2 Recurrent Deletion</title><subtitle content-type=\"alt-title\">Synonym: 16p12.1 Microdeletion</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smolen</surname><given-names>Corrine</given-names></name><degrees>MS</degrees><aff>Department of Biochemistry and Molecular Biology<break/>Pennsylvania State University<break/>University Park, Pennsylvania</aff><email>ces6136@psu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myers</surname><given-names>Scott</given-names></name><degrees>MD</degrees><aff>Professor,<break/>Department of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PA</aff><email>smyers1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girirajan</surname><given-names>Santhosh</given-names></name><degrees>MBBS, PhD</degrees><aff>Professor, Department of Biochemistry and Molecular Biology<break/>Department of Anthropology<break/>Pennsylvania State University<break/>University Park, Pennsylvania</aff><email>sxg47@psu.edu</email></contrib></contrib-group><?date-created 20150226?><?date-updated 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel16p12_2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel16p12_2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel16p12_2\" document-type=\"chapter\" object-id=\"mdel16p12_2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-17?><toc-entry id=\"toc_mdel17q12\"><title>17q12 Recurrent Deletion Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mitchel</surname><given-names>Marissa W</given-names></name><degrees>MS, CCC-SLP</degrees><email>mwmitchel@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moreno-De-Luca</surname><given-names>Daniel</given-names></name><degrees>MD, MSc</degrees><email>daniel.morenodeluca@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myers</surname><given-names>Scott M</given-names></name><degrees>MD</degrees><email>smyers1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levy</surname><given-names>Rebecca V</given-names></name><degrees>BM BCh, MSc</degrees><email>rebecca_levy@urmc.rochester.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Turner</surname><given-names>Stefanie</given-names></name><degrees>MS, CGC</degrees><email>stefturn13@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ledbetter</surname><given-names>David H</given-names></name><degrees>PhD, FACMG</degrees><email>david.ledbetter@jax.ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Martin</surname><given-names>Christa L</given-names></name><degrees>PhD, FACMG</degrees><email>clmartin1@geisinger.edu</email></contrib></contrib-group><?date-created 20161208?><?date-updated 20250206?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel17q12.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q12.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q12\" document-type=\"chapter\" object-id=\"mdel17q12.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dup17q12\"><title>17q12 Recurrent Duplication</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mefford</surname><given-names>Heather</given-names></name><degrees>MD, PhD</degrees><aff>Center for Pediatric Neurological Disease Research<break/>Department of Cellular and Molecular Biology<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>heather.mefford@stjude.org</email></contrib></contrib-group><?date-created 20160225?><?date-updated 20210429?><?date-revised 20220113?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dup17q12.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup17q12.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup17q12\" document-type=\"chapter\" object-id=\"dup17q12.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-21?><toc-entry id=\"toc_cah\"><title>21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</title><subtitle content-type=\"alt-title\">Synonyms: 21-OHD CAH, Virilizing Adrenal Hyperplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nimkarn</surname><given-names>Saroj</given-names></name><degrees>MD</degrees><email>snimkarn@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gangishetti</surname><given-names>Prasanna K</given-names></name><degrees>MBBS</degrees><email>prasanna252@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yau</surname><given-names>Mabel</given-names></name><degrees>MD</degrees><email>mabel.yau@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>New</surname><given-names>Maria I</given-names></name><degrees>MD</degrees><email>maria.new@mssm.edu</email></contrib></contrib-group><?date-created 20020226?><?date-updated 20160204?><?date-revised 20100824?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cah.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cah.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cah\" document-type=\"chapter\" object-id=\"cah.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-22?><toc-entry id=\"toc_gr_22q11deletion\"><title>22q11.2 Deletion Syndrome</title><subtitle content-type=\"alt-title\">Synonym: 22q11.2DS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McDonald-McGinn</surname><given-names>Donna M</given-names></name><degrees>MS, LCGC</degrees><email>mcginn@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hain</surname><given-names>Heather S</given-names></name><degrees>PhD, MS, LCGC</degrees><email>hainh@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Emanuel</surname><given-names>Beverly S</given-names></name><degrees>PhD</degrees><email>beverly@mail.med.upenn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zackai</surname><given-names>Elaine H</given-names></name><degrees>MD, FACMG</degrees><email>zackai@email.chop.edu</email></contrib></contrib-group><?date-created 19990923?><?date-updated 20200227?><?date-revised 20250508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gr_22q11deletion.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q11deletion.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q11deletion\" document-type=\"chapter\" object-id=\"gr_22q11deletion.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-A?><toc-entry id=\"toc_aars2-dis\"><title><italic toggle=\"yes\">AARS2</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chmiela</surname><given-names>Tomasz</given-names></name><degrees>MD</degrees><email>chmiela.tomasz@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew K</given-names></name><degrees>MD</degrees><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20241031?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aars2-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aars2-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aars2-dis\" document-type=\"chapter\" object-id=\"aars2-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ab-lipo-p\"><title>Abetalipoproteinemia</title><subtitle content-type=\"alt-title\">Synonym: Bassen-Kornzweig Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20181025?><?date-revised 20220519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ab-lipo-p.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ab-lipo-p.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ab-lipo-p\" document-type=\"chapter\" object-id=\"ab-lipo-p.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_acp\"><title>Aceruloplasminemia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miyajima</surname><given-names>Hiroaki</given-names></name><degrees>MD</degrees><email>miyajima@hama-med.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hosoi</surname><given-names>Yasushi</given-names></name><degrees>MD</degrees><email>y.hosoi@hama-med.ac.jp</email></contrib></contrib-group><?date-created 20030812?><?date-updated 20180927?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_acp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acp\" document-type=\"chapter\" object-id=\"acp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_achon1b\"><title>Achondrogenesis Type 1B</title><subtitle content-type=\"alt-title\">Synonym: ACG1B, <italic toggle=\"yes\">SLC26A2</italic>-Related Achondrogenesis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Associate Professor, Service of Genetic Medicine<break/>Lausanne University Hospital<break/>Lausanne, Switzerland</aff><email>sheila.unger@chuv.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics<break/>Department of Medicine<break/>Lausanne University Hospital<break/>Lausanne, Switzerland</aff><email>asuperti@unil.ch</email></contrib></contrib-group><?date-created 20020830?><?date-updated 20220609?><?date-revised 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_achon1b.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achon1b.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achon1b\" document-type=\"chapter\" object-id=\"achon1b.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_achondroplasia\"><title>Achondroplasia</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">FGFR3</italic>-Related Achondroplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Legare</surname><given-names>Janet M</given-names></name><degrees>MD</degrees><email>jmlegare@pediatrics.wisc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Modaff</surname><given-names>Peggy</given-names></name><degrees>MS</degrees><email>modaff@waisman.wisc.edu</email></contrib></contrib-group><?date-created 19981012?><?date-updated 20251120?><?date-revised 20260409?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_achondroplasia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achondroplasia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achondroplasia\" document-type=\"chapter\" object-id=\"achondroplasia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_achm\"><title>Achromatopsia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kohl</surname><given-names>Susanne</given-names></name><degrees>MSc, PhD</degrees><email>susanne.kohl@uni-tuebingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>J&#x000e4;gle</surname><given-names>Herbert</given-names></name><degrees>MD, Dhabil, FEBO</degrees><email>herbert.jaegle@ukr.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wissinger</surname><given-names>Bernd</given-names></name><degrees>MSc, PhD</degrees><email>wissinger@uni-tuebingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zobor</surname><given-names>Ditta</given-names></name><degrees>MD, PhD, Dhabil, FEBO</degrees><email>ditta.zobor@uni-tuebingen.de</email></contrib></contrib-group><?date-created 20040624?><?date-updated 20180920?><?date-revised 20160225?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_achm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_achm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"achm\" document-type=\"chapter\" object-id=\"achm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_npab\"><title>Acid Sphingomyelinase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wasserstein</surname><given-names>Melissa P</given-names></name><degrees>MD</degrees><aff>Professor &#x00026; Chief, Division of Pediatric Genetic Medicine<break/>Albert Einstein College of Medicine<break/>New York, New York</aff><email>mwassers@montefiore.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schuchman</surname><given-names>Edward H</given-names></name><degrees>PhD</degrees><aff>Francis Crick Professor<break/>Genetic Disease Foundation<break/>Department of Genetics &#x00026; Genomic Sciences<break/>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>edward.schuchman@mssm.edu</email></contrib></contrib-group><?date-created 20061207?><?date-updated 20230427?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_npab.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npab.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npab\" document-type=\"chapter\" object-id=\"npab.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_actg2-dis\"><title><italic toggle=\"yes\">ACTG2</italic> Visceral Myopathy</title><subtitle content-type=\"alt-title\">Synonyms: Berdon Syndrome, Familial Visceral Myopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhagwat</surname><given-names>Pranjali K</given-names></name><degrees>MTech (Pharm)</degrees><email>pranjali.bhagwat@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wangler</surname><given-names>Michael F</given-names></name><degrees>MD</degrees><email>mw147467@bcm.edu</email></contrib></contrib-group><?date-created 20150611?><?date-updated 20210506?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_actg2-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_actg2-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"actg2-dis\" document-type=\"chapter\" object-id=\"actg2-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_apds\"><title>Activated PI3K Delta Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Activated Phosphoinositide 3-Kinase Delta (PI3K&#x003b4;) Syndrome; APDS; p110&#x003b4;-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency Disease; PASLI Disease; PI3K Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sacco</surname><given-names>Keith</given-names></name><degrees>MD</degrees><aff>The Royal London Hospital<break/>Barts Health NHS Trust<break/>London, UK</aff><email>keith.sacco@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uzel</surname><given-names>Gulbu</given-names></name><degrees>MD</degrees><aff>National Institute of Allergy and Infectious Diseases<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>guzel@niaid.nih.gov</email></contrib></contrib-group><?date-created 20250130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_apds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.GeneReviews_Scope\"><title><italic toggle=\"yes\">GeneReviews</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.GeneReviews_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apds\" document-type=\"chapter\" object-id=\"apds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aip\"><title>Acute Intermittent Porphyria</title><subtitle content-type=\"alt-title\">Synonyms: PBGD Deficiency, Porphobilinogen Deaminase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sardh</surname><given-names>Eliane</given-names></name><degrees>MD, PhD</degrees><email>eliane.sardh@ki.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barbaro</surname><given-names>Michela</given-names></name><degrees>Sc, PhD</degrees><email>michela.barbaro@regionstockholm.se</email></contrib></contrib-group><?date-created 20050927?><?date-updated 20240208?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aip.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aip.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aip\" document-type=\"chapter\" object-id=\"aip.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_adamtsl4-eyes\"><title><italic toggle=\"yes\">ADAMTSL4-</italic>Related Eye Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>R&#x000f8;dahl</surname><given-names>Eyvind</given-names></name><degrees>MD, PhD</degrees><email>eyvind.rodahl@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mellgren</surname><given-names>Anne Elisabeth Christensen</given-names></name><degrees>MD, PhD</degrees><email>anne.christensen@uib.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boonstra</surname><given-names>Nils-Erik</given-names></name><degrees>MD</degrees><email>nils-erik.boonstra@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knappskog</surname><given-names>Per Morten</given-names></name><degrees>PhD</degrees><email>per.morten.knappskog@helse-bergen.no</email></contrib></contrib-group><?date-created 20120216?><?date-updated 20180705?><?date-revised 20200709?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_adamtsl4-eyes.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adamtsl4-eyes.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adamtsl4-eyes\" document-type=\"chapter\" object-id=\"adamtsl4-eyes.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_adcy5-dysk\"><title><italic toggle=\"yes\">ADCY5</italic>-Related Movement Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yang</surname><given-names>Kathryn</given-names></name><degrees>MBChB, FRCPC</degrees><email>kathryn.yang@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20141218?><?date-updated 20250626?><?date-revised 20151217?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_adcy5-dysk.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adcy5-dysk.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adcy5-dysk\" document-type=\"chapter\" object-id=\"adcy5-dysk.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aprt-def\"><title>Adenine Phosphoribosyltransferase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: 2,8-Dihydroxyadeninuria; APRT Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Edvardsson</surname><given-names>Vidar Orn</given-names></name><degrees>MD</degrees><aff>Division of Pediatric Nephrology\nChildren's Medical Center\nLandsp&#x000ed;tali &#x02013;The National University Hospital of Iceland\nReykjavik, Iceland</aff><email>vidare@landspitali.is</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sahota</surname><given-names>Amrik</given-names></name><degrees>PhD</degrees><aff>Department of Genetics\nRutgers University\nPiscataway, New Jersey</aff><email>sahota@biology.rutgers.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Palsson</surname><given-names>Runolfur</given-names></name><degrees>MD</degrees><aff>Division of Nephrology\nLandsp&#x000ed;tali &#x02013;The National University Hospital of Iceland\nUniversity of Iceland\nReykjavik, Iceland</aff><email>runolfur@landspitali.is</email></contrib></contrib-group><?date-created 20120830?><?date-updated 20190926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aprt-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aprt-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aprt-def\" document-type=\"chapter\" object-id=\"aprt-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ada2-def\"><title>Adenosine Deaminase 2 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ADA2 Deficiency, Deficiency of Adenosine Deaminase 2 (DADA2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aksentijevich</surname><given-names>Ivona</given-names></name><degrees>MD</degrees><email>aksentii@arb.niams.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sampaio Moura</surname><given-names>Natalia</given-names></name><degrees>BS</degrees><email>natalia.sampaiomoura@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barron</surname><given-names>Karyl</given-names></name><degrees>MD</degrees><email>kbarron@nih.gov</email></contrib></contrib-group><?date-created 20190808?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ada2-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada2-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada2-def\" document-type=\"chapter\" object-id=\"ada2-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ada\"><title>Adenosine Deaminase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ADA Deficiency, ADA1 Deficiency, <italic toggle=\"yes\">ADA</italic>-Related Immune Deficiency, Adenosine Deaminase 1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hershfield</surname><given-names>Michael</given-names></name><degrees>MD</degrees><aff>Professor of Medicine and Biochemistry<break/>Duke University Medical Center<break/>Durham, North Carolina</aff><email>michael.hershfield@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tarrant</surname><given-names>Teresa</given-names></name><degrees>MD</degrees><aff>Associate Professor of Medicine<break/>Duke University Medical Center<break/>Durham, North Carolina</aff><email>teresa.tarrant@duke.edu</email></contrib></contrib-group><?date-created 20061003?><?date-updated 20240307?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ada.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ada.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ada\" document-type=\"chapter\" object-id=\"ada.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_adnp-dis\"><title><italic toggle=\"yes\">ADNP-</italic>Related Helsmoortel-Van der Aa Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ADNP-</italic>Related Intellectual Disability and Autism Spectrum Disorder (<italic toggle=\"yes\">ADNP</italic>-Related ID/ASD), ADNP Syndrome, Helsmoortel-Van der Aa Syndrome (HVDAS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harutyunyan</surname><given-names>Lusine</given-names></name><aff>Doctoral researcher<break/>Disability Studies<break/>University of Antwerp<break/>Antwerp, Belgium</aff><email>lusine.harutyunyan@uantwerpen.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kooy</surname><given-names>R Frank</given-names></name><degrees>PhD</degrees><aff>Professor, Cognitive Genetics<break/>Department of Medical Genetics<break/>University of Antwerp<break/>Antwerp, Belgium</aff><email>frank.kooy@uantwerpen.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>D'Incal</surname><given-names>Claudio Peter</given-names></name><degrees>PhD</degrees><aff>Doctoral researcher<break/>Department of Medical Genetics<break/>University of Antwerp<break/>Antwerp, Belgium</aff><email>claudio.dincal@uantwerpen.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Dijck</surname><given-names>Anke</given-names></name><degrees>MD, PhD</degrees><aff>Postdoctoral Research Assistant, Disability studies University of Antwerp<break/>Antwerp, Belgium</aff><email>anke.vandijck@uantwerpen.be</email></contrib></contrib-group><?date-created 20160407?><?date-updated 20250821?><?date-revised 20221006?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_adnp-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnp-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnp-dis\" document-type=\"chapter\" object-id=\"adnp-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_refsum\"><title>Adult Refsum Disease</title><subtitle content-type=\"alt-title\">Synonym: Classic Refsum Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waterham</surname><given-names>Hans R</given-names></name><degrees>PhD</degrees><email>h.r.waterham@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wanders</surname><given-names>Ronald JA</given-names></name><degrees>PhD</degrees><email>r.j.wanders@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leroy</surname><given-names>Bart P</given-names></name><degrees>MD, PhD</degrees><email>bart.leroy@ugent.be</email></contrib></contrib-group><?date-created 20060320?><?date-updated 20210930?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_refsum.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_refsum.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"refsum\" document-type=\"chapter\" object-id=\"refsum.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aff4-chops\"><title><italic toggle=\"yes\">AFF4</italic>-Related CHOPS Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Izumi</surname><given-names>Kosuke</given-names></name><degrees>MD, PhD</degrees><aff>Division of Genetics and Metabolism<break/>Department of Pediatrics<break/>University of Texas Southwestern Medical Center<break/>Dallas, Texas</aff><email>kosuke.izumi@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raible</surname><given-names>Sara</given-names></name><degrees>MS, CGC</degrees><aff>Perelman School of Medicine<break/>University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>sarah.raible@pennmedicine.upenn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krantz</surname><given-names>Ian</given-names></name><degrees>MD</degrees><aff>Cohen Children&#x02019;s Medical Center / Northwell Health<break/>New York, New York</aff><email>ikrantz@northwell.edu</email></contrib></contrib-group><?date-created 20260219?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aff4-chops.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aff4-chops.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aff4-chops\" document-type=\"chapter\" object-id=\"aff4-chops.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca28\"><title><italic toggle=\"yes\">AFG3L2</italic>-Related Neurologic Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coarelli</surname><given-names>Giulia</given-names></name><degrees>MD, PhD</degrees><email>giulia.coarelli@icm-institute.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mouraux</surname><given-names>Charlotte</given-names></name><degrees>MD</degrees><email>charlotte.mouraux@icm-institute.org</email><email>charlotte.mouraux@chuliege.be</email></contrib></contrib-group><?date-created 20110517?><?date-updated 20250918?><?date-revised 20130207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca28.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca28.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca28\" document-type=\"chapter\" object-id=\"sca28.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ags\"><title>Aicardi-Gouti&#x000e8;res Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crow</surname><given-names>Yanick J</given-names></name><degrees>MBBS, BMedSci, MRCP, PhD</degrees></contrib></contrib-group><?date-created 20050629?><?date-updated 20161122?><?date-revised 20120301?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ags.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ags.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ags\" document-type=\"chapter\" object-id=\"ags.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aic\"><title>Aicardi Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sutton</surname><given-names>V Reid</given-names></name><degrees>MD</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine &#x00026; Texas Children's Hospital<break/>Houston, Texas</aff><email>vrsutton@texaschildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van den Veyver</surname><given-names>Ignatia B</given-names></name><degrees>MD</degrees><aff>Professor, Departments of Obstetrics and Gynecology and Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>iveyver@bcm.edu</email></contrib></contrib-group><?date-created 20060630?><?date-updated 20201112?><?date-revised 20120920?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aic.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aic.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aic\" document-type=\"chapter\" object-id=\"aic.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ipa\"><title><italic toggle=\"yes\">AIP</italic> Familial Isolated Pituitary Adenomas</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Korbonits</surname><given-names>M&#x000e1;rta</given-names></name><degrees>MD, PhD</degrees><aff>Department of Endocrinology<break/>Barts and the London School of Medicine<break/>Queen Mary University of London<break/>London, United Kingdom</aff><email>m.korbonits@qmul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hern&#x000e1;ndez-Ram&#x000ed;rez</surname><given-names>Laura C</given-names></name><degrees>MD, PhD</degrees><aff>Red de Apoyo a la Investigaci&#x000f3;n<break/>Coordinaci&#x000f3;n de la Investigaci&#x000f3;n Cient&#x000ed;fica<break/>Universidad Nacional Aut&#x000f3;noma de M&#x000e9;xico e Instituto Nacional de Ciencias M&#x000e9;dicas y Nutrici&#x000f3;n <italic toggle=\"yes\">Salvador Zubir&#x000e1;n</italic><break/>Mexico City, Mexico</aff><email>laura.hernandez@cic.unam.mx</email></contrib></contrib-group><?date-created 20120621?><?date-updated 20250116?><?date-revised 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ipa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipa\" document-type=\"chapter\" object-id=\"ipa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alagille\"><title>Alagille Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Arteriohepatic Dysplasia, Syndromic Bile Duct Paucity</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Spinner</surname><given-names>Nancy B</given-names></name><degrees>PhD</degrees><email>spinner@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Loomes</surname><given-names>Kathleen M</given-names></name><degrees>MD</degrees><email>loomes@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krantz</surname><given-names>Ian D</given-names></name><degrees>MD</degrees><email>krantz@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gilbert</surname><given-names>Melissa A</given-names></name><degrees>PhD</degrees><email>gilbertma@chop.edu</email></contrib></contrib-group><?date-created 20000519?><?date-updated 20240104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alagille.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alagille.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alagille\" document-type=\"chapter\" object-id=\"alagille.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alexander\"><title>Alexander Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Srivastava</surname><given-names>Siddharth</given-names></name><degrees>MD</degrees><aff>Department of Neurology\nBoston Children's Hospital\nBoston, Massachusetts</aff><email>siddharth.srivastava@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waldman</surname><given-names>Amy</given-names></name><degrees>MD, MSCE</degrees><aff>Division of Neurology, Children's Hospital of Philadelphia;\nDepartments of Neurology and Pediatrics\nPerelman School of Medicine\nUniversity of Pennsylvania\nPhiladelphia, Pennsylvania</aff><email>waldman@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Naidu</surname><given-names>Sakkubai</given-names></name><degrees>MD</degrees><aff>Kennedy Krieger Institute\nPediatric Neurology and Pediatrics\nJohns Hopkins University Medical Institutions\nBaltimore, Maryland</aff><email>naidu@kennedykrieger.org</email></contrib></contrib-group><?date-created 20021115?><?date-updated 20201112?><?date-revised 20070309?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alexander.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alexander.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alexander\" document-type=\"chapter\" object-id=\"alexander.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alkap\"><title>Alkaptonuria</title><subtitle content-type=\"alt-title\">Synonym: Alcaptonuria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Introne</surname><given-names>Wendy J</given-names></name><degrees>MD</degrees><aff>Staff Clinician, Office of the Clinical Director<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>wintrone@nhgri.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Perry</surname><given-names>Monique</given-names></name><degrees>MD</degrees><aff>Staff Clinician, Rehabilitation Medicine<break/>Clinical Center<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>mperry@cc.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Marcus</given-names></name><degrees>MD</degrees><aff>Staff Clinician, National Heart, Lung, and Blood Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>chenmy@nhlbi.nih.gov</email></contrib></contrib-group><?date-created 20030509?><?date-updated 20210610?><?date-revised 20090702?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alkap.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alkap.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alkap\" document-type=\"chapter\" object-id=\"alkap.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alk-nbs\"><title><italic toggle=\"yes\">ALK</italic>-Related Neuroblastic Tumor Susceptibility</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Greengard</surname><given-names>Emily G</given-names></name><degrees>MD</degrees><aff>University of Minnesota Masonic Children's Hospital<break/>Minneapolis, Minnesota</aff><email>emilyg@umn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Perrino</surname><given-names>Melissa R</given-names></name><degrees>MD</degrees><aff>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>melissa.perrino@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Park</surname><given-names>Julie R</given-names></name><degrees>MD</degrees><aff>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>julie.park@stjude.org</email></contrib></contrib-group><?date-created 20100105?><?date-updated 20240523?><?date-revised 20130509?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alk-nbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alk-nbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alk-nbs\" document-type=\"chapter\" object-id=\"alk-nbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_thctd\"><title>Allan-Herndon-Dudley Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: MCT8 Deficiency, MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sarret</surname><given-names>Catherine</given-names></name><degrees>MD, PhD</degrees><aff>Centre de Comp&#x000e9;tence des Leucodystrophies et Leucoenc&#x000e9;phalopathies de Cause Rare<break/>Centre Hospitalier Universitaire de Clermont-Ferrand<break/>Clermont-Ferrand, France</aff><email>csarret@chu-clermontferrand.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oliver Petit</surname><given-names>Isabelle</given-names></name><degrees>MD</degrees><aff>Endocrine Unit<break/>Children's Hospital<break/>Toulouse, France</aff><email>oliver.i@chu-toulouse.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tonduti</surname><given-names>Davide</given-names></name><degrees>MD, PhD</degrees><aff>Child Neurology Unit<break/>V Buzzi Children's Hospital<break/>Milan, Italy</aff><email>davidetondu@hotmail.com</email></contrib></contrib-group><?date-created 20100309?><?date-updated 20200116?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_thctd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thctd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thctd\" document-type=\"chapter\" object-id=\"thctd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alpha1-a\"><title>Alpha-1 Antitrypsin Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: AAT Deficiency, A1AT Deficiency, AATD, Alpha-1 Antiprotease Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stoller</surname><given-names>James K</given-names></name><degrees>MD, MS</degrees><aff>Respiratory and Education Institutes<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>stollej@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hupertz</surname><given-names>Vera</given-names></name><degrees>MD</degrees><aff>Pediatric Gastroenterology<break/>Pediatric Institute<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>hupertv@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aboussouan</surname><given-names>Loutfi S</given-names></name><degrees>MD</degrees><aff>Respiratory Institute<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>aboussl@ccf.org</email></contrib></contrib-group><?date-created 20061027?><?date-updated 20200521?><?date-revised 20230601?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alpha1-a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpha1-a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpha1-a\" document-type=\"chapter\" object-id=\"alpha1-a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_a-mannosidosis\"><title>Alpha-Mannosidosis</title><subtitle content-type=\"alt-title\">Synonym: &#x003b1;-Mannosidosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ficicioglu</surname><given-names>Can</given-names></name><degrees>MD, PhD</degrees><aff>The Children's Hospital of Philadelphia;<break/>Division of Human Genetics and Metabolism<break/>Perelman School of Medicine at the University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>ficicioglu@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stepien</surname><given-names>Karolina M</given-names></name><degrees>MD, PhD</degrees><aff>Mark Holland Metabolic Unit<break/>Salford Royal NHS Foundation Trust<break/>Salford Care Organisation<break/>Part of the Northern Care Alliance NHS Group<break/>Salford, United Kingdom</aff><email>karolina.stepien@nca.nhs.uk</email></contrib></contrib-group><?date-created 20011011?><?date-updated 20240613?><?date-revised 20190718?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_a-mannosidosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-mannosidosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-mannosidosis\" document-type=\"chapter\" object-id=\"a-mannosidosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_a-thal\"><title>Alpha-Thalassemia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tamary</surname><given-names>Hannah</given-names></name><degrees>MD</degrees><aff>Hematology-Oncology Department<break/>Schneider Children's Medical Center of Israel<break/>Petah Tiqva, Israel</aff><email>htamary@tauex.tau.ac.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dgany</surname><given-names>Orly</given-names></name><degrees>PhD</degrees><aff>Felsenstein Medical Research Center<break/>Petah Tiqva, Israel</aff><email>odgani@clalit.org.il</email></contrib></contrib-group><?date-created 20051101?><?date-updated 20201001?><?date-revised 20240523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_a-thal.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_a-thal.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"a-thal\" document-type=\"chapter\" object-id=\"a-thal.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xlmr\"><title>Alpha-Thalassemia X-Linked Intellectual Disability Syndrome</title><subtitle content-type=\"alt-title\">Synonym: ATR-X Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevenson</surname><given-names>Roger E</given-names></name><degrees>MD, FACMG</degrees><aff>Clinical Genetics and Cytogenetics<break/>Greenwood Genetic Center<break/>Greenwood, South Carolina</aff><email>res@ggc.org</email></contrib></contrib-group><?date-created 20000619?><?date-updated 20200528?><?date-revised 20090813?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xlmr.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlmr.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlmr\" document-type=\"chapter\" object-id=\"xlmr.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alpk1-auto\"><title><italic toggle=\"yes\">ALPK1-</italic>Related Autoinflammatory Disease</title><subtitle content-type=\"alt-title\">Synonym: ROSAH Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kozycki</surname><given-names>Christina</given-names></name><degrees>MD, MPH</degrees><aff>Innate Immune Activation Unit<break/>National Institute of Allergy and Infectious Diseases<break/>Bethesda, Maryland</aff><email>christina.kozycki@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kastner</surname><given-names>Dan</given-names></name><degrees>MD, PhD</degrees><aff>Inflammatory Disease Section<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>kastnerd@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huryn</surname><given-names>Laryssa</given-names></name><degrees>MD</degrees><aff>National Eye Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>laryssa.huryn@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kodati</surname><given-names>Shilpa</given-names></name><degrees>MD</degrees><aff>Kellogg Eye Center<break/>Department of Ophthalmology<break/>University of Michigan<break/>Ann Arbor, Michigan</aff><email>shko@umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Warner</surname><given-names>Blake M</given-names></name><degrees>DDS, PhD, MPH</degrees><aff>National Institute of Dental and Craniofacial Research<break/>National Institutes of Health</aff><email>blake.warner@nih.gov</email></contrib></contrib-group><?date-created 20240627?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alpk1-auto.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpk1-auto.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpk1-auto\" document-type=\"chapter\" object-id=\"alpk1-auto.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alport\"><title>Alport Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Familial Nephritis, Hereditary Nephritis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nozu</surname><given-names>Kandai</given-names></name><degrees>MD, PhD</degrees><email>kandainozu@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yamamura</surname><given-names>Tomohiko</given-names></name><degrees>MD, PhD</degrees><email>tomohiko@med.kobe-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Horinouchi</surname><given-names>Tomoko</given-names></name><degrees>MD, PhD</degrees><email>tohori@med.kobe-u.ac.jp</email></contrib></contrib-group><?date-created 20010828?><?date-updated 20250227?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alport.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alport.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alport\" document-type=\"chapter\" object-id=\"alport.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_iahsp\"><title><italic toggle=\"yes\">ALS2</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Orrell</surname><given-names>Richard W</given-names></name><degrees>BSc, MD, FRCP</degrees><aff>University Department of Clinical NeurosciencesInstitute of NeurologyUniversity College LondonLondon, United Kingdom</aff><email>r.orrell@ucl.ac.uk</email></contrib></contrib-group><?date-created 20051021?><?date-updated 20210513?><?date-revised 20130418?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_iahsp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iahsp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iahsp\" document-type=\"chapter\" object-id=\"iahsp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alstrom\"><title>Alstr&#x000f6;m Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paisey</surname><given-names>Richard B</given-names></name><degrees>MD, FRCP</degrees><email>richard.paisey@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steeds</surname><given-names>Rick</given-names></name><degrees>MD</degrees><email>rick.steeds@uhb.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barrett</surname><given-names>Tim</given-names></name><degrees>MD</degrees><email>t.g.barrett@bham.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Williams</surname><given-names>Denise</given-names></name><degrees>MD</degrees><email>denise.williams21@nhsnet</email><email>denise.williams@bwhct.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Geberhiwot</surname><given-names>Tarekegn</given-names></name><degrees>MD</degrees><email>tarekegn.geberhiwot@uhb.nhs.uk</email><email>t.g.hiwot@bham.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gunay-Aygun</surname><given-names>Meral</given-names></name><degrees>MD</degrees><email>mgunaya1@jhu.edu</email></contrib></contrib-group><?date-created 20030207?><?date-updated 20190613?><?date-revised 20040511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alstrom.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alstrom.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alstrom\" document-type=\"chapter\" object-id=\"alstrom.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alzheimer\"><title>Alzheimer Disease Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bird</surname><given-names>Thomas D</given-names></name><aff>Seattle VA Medical Center<break/>Departments of Neurology and Medicine<break/>University of Washington<break/>Seattle, Washington</aff><email>tomnroz@uw.edu</email></contrib></contrib-group><?date-created 19981023?><?date-updated 20181220?><?date-revised 20150924?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alzheimer.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Clinical_Characteristics_of_Al\"><title> Clinical Characteristics of Alzheimer Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Clinical_Characteristics_of_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Causes_of_Alzheimer_Disease\"><title> Causes of Alzheimer Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Causes_of_Alzheimer_Disease\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Evaluation_Strategies_to_Ident\"><title> Evaluation Strategies to Identify the Genetic Cause of Alzheimer Disease in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Evaluation_Strategies_to_Ident\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Inform_Genetic_Counseling_of_F\"><title> Inform Genetic Counseling of Family Members of an Individual with Alzheimer Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Inform_Genetic_Counseling_of_F\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alzheimer.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alzheimer\" document-type=\"chapter\" object-id=\"alzheimer.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_als-overview\"><title>Amyotrophic Lateral Sclerosis Overview</title><subtitle content-type=\"alt-title\">Synonym: Lou Gehrig Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Siddique</surname><given-names>Nailah</given-names></name><degrees>RN, MSN</degrees><aff>Division of Neuromuscular Medicine<break/>Davee Department of Neurology and Clinical Neurosciences<break/>Northwestern University Feinberg School of Medicine<break/>Chicago, Illinois</aff><email>nsiddique@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Siddique</surname><given-names>Teepu</given-names></name><degrees>MD, DSc (hc)</degrees><aff>Division of Neuromuscular Medicine<break/>Davee Department of Neurology and Clinical Neurosciences;<break/>Department of Cell and Molecular Biology<break/>Northwestern University Feinberg School of Medicine<break/>Chicago, Illinois</aff><email>t-siddique@northwestern.edu</email></contrib></contrib-group><?date-created 20010323?><?date-updated 20191003?><?date-revised 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_als-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of ALS</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Genetic_Causes_of_ALS\"><title> Genetic Causes of ALS</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Genetic_Causes_of_ALS\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Evaluation_Strategies_to_Id\"><title> Evaluation Strategies to Identify the Genetic Cause of ALS in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Evaluation_Strategies_to_Id\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Management_of_ALS\"><title> Management of ALS</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Management_of_ALS\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-overview\" document-type=\"chapter\" object-id=\"als-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_acpp\"><title>Andersen-Tawil Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Long QT Syndrome Type 7 (LQTS Type 7)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Veerapandiyan</surname><given-names>Aravindhan</given-names></name><degrees>MBBS</degrees><email>aravindhan_veerapandiyan@urmc.rochester.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Statland</surname><given-names>Jeffrey M</given-names></name><degrees>MD</degrees><email>jstatland@kumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tawil</surname><given-names>Rabi</given-names></name><degrees>MD</degrees><email>rabi_tawil@urmc.rochester.edu</email></contrib></contrib-group><?date-created 20041122?><?date-updated 20180607?><?date-revised 20150903?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_acpp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_acpp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"acpp\" document-type=\"chapter\" object-id=\"acpp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_androgen\"><title>Androgen Insensitivity Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Testicular Feminization</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gottlieb</surname><given-names>Bruce</given-names></name><degrees>PhD</degrees><email>bruce.gottlieb@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trifiro</surname><given-names>Mark A</given-names></name><degrees>MD</degrees><email>mark.trifiro@mcgill.ca</email></contrib></contrib-group><?date-created 19990324?><?date-updated 20170511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_androgen.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_androgen.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"androgen\" document-type=\"chapter\" object-id=\"androgen.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_angelman\"><title>Angelman Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dagli</surname><given-names>Aditi I</given-names></name><degrees>MD</degrees><aff>Medical Genetics<break/>Orlando Health Arnold Palmer Hospital<break/>Orlando, Florida</aff><email>aditidagli@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mathews</surname><given-names>Jennifer</given-names></name><degrees>MS, CGC</degrees><aff>Division of Genetics and Metabolism<break/>University of North Carolina at Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>muelljm@email.unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Williams</surname><given-names>Charles A</given-names></name><degrees>MD</degrees><aff>Division of Genetics and Metabolism<break/>Department of Pediatrics<break/>University of Florida College of Medicine<break/>Gainesville, Florida</aff><email>willicx@peds.ufl.edu</email></contrib></contrib-group><?date-created 19980915?><?date-updated 20210422?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_angelman.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_angelman.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"angelman\" document-type=\"chapter\" object-id=\"angelman.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kbgs\"><title><italic toggle=\"yes\">ANKRD11</italic>-Related KBG Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">ANKRD11</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morel Swols</surname><given-names>Dayna</given-names></name><degrees>MS, CGC</degrees><email>dmorel@med.miami.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tekin</surname><given-names>Mustafa</given-names></name><degrees>MD</degrees><email>mtekin@med.miami.edu</email></contrib></contrib-group><?date-created 20180322?><?date-updated 20260611?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kbgs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kbgs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kbgs\" document-type=\"chapter\" object-id=\"kbgs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ankrd17-nds\"><title><italic toggle=\"yes\">ANKRD17</italic>-Related Neurodevelopmental Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Chopra-Amiel-Gordon Syndrome (CAGS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sveden</surname><given-names>Abigail</given-names></name><degrees>MS, CGC</degrees><email>abigail.sveden@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordon</surname><given-names>Christopher T</given-names></name><degrees>PhD</degrees><email>chris.gordon@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Amiel</surname><given-names>Jeanne</given-names></name><degrees>MD, PhD</degrees><email>jeanne.amiel@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chopra</surname><given-names>Maya</given-names></name><degrees>MBBS, FRACP</degrees><email>maya.chopra@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20221222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ankrd17-nds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd17-nds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd17-nds\" document-type=\"chapter\" object-id=\"ankrd17-nds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ankrd26\"><title><italic toggle=\"yes\">ANKRD26</italic>-Related Thrombocytopenia</title><subtitle content-type=\"alt-title\">Synonym: Thrombocytopenia 2 (THC2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Perez Botero</surname><given-names>Juliana</given-names></name><degrees>MD</degrees><email>juliana.perezbotero@bcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dugan</surname><given-names>Stefanie N</given-names></name><degrees>MS, CGC</degrees><email>stefanie.dugan@ bcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anderson</surname><given-names>Matthew W</given-names></name><degrees>MD, PhD</degrees><email>matthew.anderson@ bcw.edu</email></contrib></contrib-group><?date-created 20180621?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ankrd26.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ankrd26.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ankrd26\" document-type=\"chapter\" object-id=\"ankrd26.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ano5-md\"><title><italic toggle=\"yes\">ANO5</italic>-Related Muscle Disease</title><subtitle content-type=\"alt-title\">Synonym: Anoctaminopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Palmio</surname><given-names>Johanna</given-names></name><degrees>MD, PhD</degrees><email>johanna.palmio@tuni.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Penttil&#x000e4;</surname><given-names>Sini</given-names></name><degrees>PhD</degrees><email>sini.penttila@hus.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jokela</surname><given-names>Manu</given-names></name><degrees>MD, PhD</degrees><email>mejoke@utu.fi</email></contrib></contrib-group><?date-created 20121129?><?date-updated 20250515?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ano5-md.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ano5-md.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ano5-md\" document-type=\"chapter\" object-id=\"ano5-md.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ap4-def\"><title>AP-4-Associated Hereditary Spastic Paraplegia</title><subtitle content-type=\"alt-title\">Synonyms: Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency), AP-4-Associated HSP, AP-4 Deficiency Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alecu</surname><given-names>Julian</given-names></name><degrees>MD, PhD</degrees><email>julian.alecu@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schierbaum</surname><given-names>Luca</given-names></name><degrees>MD, PhD</degrees><email>luca.schierbaum@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20181213?><?date-updated 20250206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ap4-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ap4-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ap4-def\" document-type=\"chapter\" object-id=\"ap4-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fap\"><title><italic toggle=\"yes\">APC</italic>-Associated Polyposis Conditions</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yen</surname><given-names>Timothy</given-names></name><degrees>MD</degrees><email>timothy.yen@cuanschutz.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stanich</surname><given-names>Peter P</given-names></name><degrees>MD</degrees><email>peter.stanich@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Axell</surname><given-names>Lisen</given-names></name><degrees>MS, CGC</degrees><email>lisen.axell@cuanschutz.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patel</surname><given-names>Swati G</given-names></name><degrees>MD, MS</degrees><email>swati.patel@cuanschutz.edu</email></contrib></contrib-group><?date-created 19981218?><?date-updated 20220512?><?date-revised 20040920?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fap.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fap.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fap\" document-type=\"chapter\" object-id=\"fap.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_apert\"><title>Apert Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Acrocephalosyndactyly Type I</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wenger</surname><given-names>Tara L</given-names></name><degrees>MD, PhD</degrees><email>tara.wenger@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hing</surname><given-names>Anne V</given-names></name><degrees>MD</degrees><email>anne.hing@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evans</surname><given-names>Kelly N</given-names></name><degrees>MD</degrees><email>kelly.evans@seattlechildrens.org</email></contrib></contrib-group><?date-created 20190530?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_apert.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apert.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apert\" document-type=\"chapter\" object-id=\"apert.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_apob-hbl\"><title><italic toggle=\"yes\">APOB</italic>-Related Familial Hypobetalipoproteinemia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20210513?><?date-revised 20210909?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_apob-hbl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apob-hbl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apob-hbl\" document-type=\"chapter\" object-id=\"apob-hbl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arg1\"><title>Arginase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ARG1 Deficiency, Arginase-1 Deficiency, Hyperargininemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sun</surname><given-names>Angela</given-names></name><degrees>MD</degrees><aff>Seattle Children's Hospital;<break/>University of Washington<break/>Seattle, Washington</aff><email>angela.sun@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crombez</surname><given-names>Eric A</given-names></name><degrees>MD</degrees><aff>Ultragenyx Pharmaceutical Inc<break/>Novato, California</aff><email>ecrombez@ultragenyx.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Derek</given-names></name><degrees>MD</degrees><aff>University of California Los Angeles Medical Center<break/>Los Angeles, California</aff><email>dawong@mednet.ucla.edu</email></contrib></contrib-group><?date-created 20041021?><?date-updated 20200528?><?date-revised 20101005?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arg1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arg1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arg1\" document-type=\"chapter\" object-id=\"arg1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_args-aciduria\"><title>Argininosuccinate Lyase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Argininosuccinic Acid Lyase Deficiency (ASLD), Argininosuccinic Aciduria (ASA)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagamani</surname><given-names>Sandesh CS</given-names></name><degrees>MBBS, MD</degrees><email>nagamani@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burrage</surname><given-names>Lindsay C</given-names></name><degrees>MD, PhD</degrees><email>burrage@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Brendan</given-names></name><degrees>MD, PhD</degrees><email>blee@bcm.edu</email></contrib></contrib-group><?date-created 20110203?><?date-updated 20250814?><?date-revised 20120202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_args-aciduria.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_args-aciduria.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"args-aciduria\" document-type=\"chapter\" object-id=\"args-aciduria.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arid1b-dis\"><title><italic toggle=\"yes\">ARID1B</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vergano</surname><given-names>Samantha A</given-names></name><degrees>MD</degrees><email>samantha.vergano@chkd.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Sluijs</surname><given-names>Pleuntje J</given-names></name><degrees>MSc</degrees><email>p.j.van_der_sluijs@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Santen</surname><given-names>Gijs</given-names></name><degrees>MD, PhD</degrees><email>santen@lumc.nl</email></contrib></contrib-group><?date-created 20190523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arid1b-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arid1b-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arid1b-dis\" document-type=\"chapter\" object-id=\"arid1b-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aadc-def\"><title>Aromatic L-Amino Acid Decarboxylase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: AADC Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Blau</surname><given-names>Nenad</given-names></name><degrees>PhD</degrees><aff>Division of Metabolism<break/>University Children's Hospital Zurich<break/>Zurich, Switzerland</aff><email>nenad.blau@kispi.uzh.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pearson</surname><given-names>Toni S</given-names></name><degrees>MD, MBBS</degrees><aff>Departments of Pediatrics and Neurology<break/>Nationwide Children's Hospital;<break/>Ohio State University College of Medicine<break/>Columbus, Ohio</aff><email>toni.pearson@nationwidechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>MRCP, PhD</degrees><aff>Developmental Neurosciences<break/>Zayed Centre for Research into Rare Disease in Children<break/>UCL GOS Institute of Child Health;<break/>Department of Neurology<break/>Great Ormond Street Hospital<break/>London, United Kingdom</aff><email>manju.kurian@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Elsea</surname><given-names>Sarah H</given-names></name><degrees>PhD, FACMG</degrees><aff>Department. of Molecular &#x00026; Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>sarah.elsea@bcm.edu</email></contrib></contrib-group><?date-created 20231012?><?date-revised 20250123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aadc-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aadc-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aadc-def\" document-type=\"chapter\" object-id=\"aadc-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arvd\"><title>Arrhythmogenic Right Ventricular Cardiomyopathy Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McNally</surname><given-names>Elizabeth</given-names></name><degrees>MD, PhD</degrees><email>elizabeth.mcnally@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacLeod</surname><given-names>Heather</given-names></name><degrees>MS</degrees><email>hmacleodgc@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dellefave-Castillo</surname><given-names>Lisa</given-names></name><degrees>MS, CGC</degrees><email>lisa.m.castillo@northwestern.edu</email></contrib></contrib-group><?date-created 20050418?><?date-updated 20230511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arvd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Clinical_Characteristics_of_Arrhyth\"><title> Clinical Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Clinical_Characteristics_of_Arrhyth\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Genetic_Causes_of_Arrhythmogenic_Ri\"><title> Genetic Causes of Arrhythmogenic Right Ventricular Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Genetic_Causes_of_Arrhythmogenic_Ri\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Evaluation_Strategy_to_Identify_the\"><title> Evaluation Strategy to Identify the Genetic Cause of Arrhythmogenic Right Ventricular Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Evaluation_Strategy_to_Identify_the\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Management_of_Arrhythmogenic_Right\"><title> Management of Arrhythmogenic Right Ventricular Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Management_of_Arrhythmogenic_Right\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Genetic_Risk_Assessment_and_Evaluat\"><title> Genetic Risk Assessment and Evaluation of Relatives At-Risk</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Genetic_Risk_Assessment_and_Evaluat\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arvd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arvd\" document-type=\"chapter\" object-id=\"arvd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arsacs\"><title>ARSACS</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia Type 6, ATX/HSP-SACS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vermeer</surname><given-names>Sascha</given-names></name><degrees>MD, PhD</degrees><email>sascha.vermeer@uzleuven.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van de Warrenburg</surname><given-names>Bart P</given-names></name><degrees>MD, PhD</degrees><email>bart.vandewarrenburg@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kamsteeg</surname><given-names>Erik-Jan</given-names></name><degrees>PhD</degrees><email>erik-jan.kamsteeg@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brais</surname><given-names>Bernard</given-names></name><degrees>MD, PhD</degrees><email>bernard.brais@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Synofzik</surname><given-names>Matthis</given-names></name><degrees>MD</degrees><email>matthis.synofzik@uni-tuebingen.de</email></contrib></contrib-group><?date-created 20031209?><?date-updated 20200102?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arsacs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arsacs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arsacs\" document-type=\"chapter\" object-id=\"arsacs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arterial-t\"><title>Arterial Tortuosity Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Callewaert</surname><given-names>Bert</given-names></name><degrees>MD, PhD</degrees><email>bert.callewaert@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Paepe</surname><given-names>Anne</given-names></name><degrees>MD, PhD</degrees><email>anne.depaepe@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coucke</surname><given-names>Paul</given-names></name><degrees>MD, PhD</degrees><email>paul.coucke@ugent.be</email></contrib></contrib-group><?date-created 20141113?><?date-updated 20201119?><?date-revised 20230223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arterial-t.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arterial-t.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arterial-t\" document-type=\"chapter\" object-id=\"arterial-t.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mld\"><title>Arylsulfatase A Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ARSA Deficiency, Metachromatic Leukodystrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gomez-Ospina</surname><given-names>Natalia</given-names></name><degrees>MD, PhD</degrees><aff>Assistant Professor<break/>Department of Pediatrics<break/>Divisions of Medical Genetics and Stem Cell Transplantation<break/>Stanford University<break/>Stanford, California</aff><email>gomezosp@stanford.edu</email></contrib></contrib-group><?date-created 20060530?><?date-updated 20240208?><?date-revised 20240425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mld.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mld.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mld\" document-type=\"chapter\" object-id=\"mld.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_asah1\"><title><italic toggle=\"yes\">ASAH1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dyment</surname><given-names>David A</given-names></name><degrees>DPhil, MD</degrees><aff>Children's Hospital of Eastern Ontario Research Institute<break/>Department of Biochemistry, Microbiology, and Immunology<break/>University of Ottawa<break/>Ottawa, Ontario, Canada</aff><email>ddyment@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bennett</surname><given-names>Steffany AL</given-names></name><degrees>PhD</degrees><aff>Department of Biochemistry, Microbiology, and Immunology<break/>University of Ottawa<break/>Ottawa, Ontario, Canada</aff><email>steffanyann.bennett@uottawa.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Medin</surname><given-names>Jeffrey A</given-names></name><degrees>PhD</degrees><aff>Departments of Pediatrics and Biochemistry<break/>Medical College of Wisconsin<break/>Milwaukee, Wisconsin</aff><email>jmedin@mcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levade</surname><given-names>Thierry</given-names></name><degrees>MD, PhD</degrees><aff>Laboratoire de Biochimie M&#x000e9;tabolique<break/>CHU Toulouse<break/>INSERM U1037, Centre de Recherches en Canc&#x000e9;rologie de Toulouse<break/>Universit&#x000e9; Paul Sabatier<break/>Toulouse, France</aff><email>thierry.levade@inserm.fr</email></contrib></contrib-group><?date-created 20180329?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_asah1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asah1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asah1\" document-type=\"chapter\" object-id=\"asah1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_as-def\"><title>Asparagine Synthetase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: ASNS Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alfadhel</surname><given-names>Majid</given-names></name><degrees>MD, HHSc, SSC-Ped, ABHS(CH), FCCMG</degrees><aff>Genetics Division, Department of Pediatrics<break/>King Saud Bin Abdulaziz University for Health Sciences<break/>King Abdulaziz Medical City<break/>Riyadh, Saudi Arabia</aff><email>dralfadhelm@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Associate Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib></contrib-group><?date-created 20180920?><?date-updated 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_as-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_as-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"as-def\" document-type=\"chapter\" object-id=\"as-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_agu\"><title>Aspartylglucosaminuria</title><subtitle content-type=\"alt-title\">Synonyms: AGA Deficiency, Aspartylglucosaminidase Deficiency, Aspartylglycosaminuria, Glycoasparaginase Deficiency, Glycosylasparaginase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goodspeed</surname><given-names>Kimberly</given-names></name><degrees>MD, MSCS</degrees><aff>Departments of Pediatrics, Neurology, and Psychiatry<break/>University of Texas Southwestern Medical Center<break/>Dallas, Texas</aff><email>kimberly.goodspeed@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Xin</given-names></name><degrees>PhD</degrees><aff>Department of Pediatrics<break/>University of Texas Southwestern Medical Center<break/>Dallas, Texas</aff><email>xin.chen@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tchan</surname><given-names>Michel</given-names></name><degrees>MBBS, PhD, BMedSc, FRACP</degrees><aff>Department of Genetic Medicine<break/>Westmead Hospital<break/>Sydney, Australia</aff><email>michel.tchan@health.nsw.gov.au</email></contrib></contrib-group><?date-created 20240118?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_agu.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_agu.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"agu\" document-type=\"chapter\" object-id=\"agu.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aspm-pm\"><title><italic toggle=\"yes\">ASPM</italic> Primary Microcephaly</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ASPM</italic> Microcephalia Vera, Microcephaly Primary Hereditary 5 (MCPH5)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Verloes</surname><given-names>Alain</given-names></name><degrees>MD, PhD</degrees><email>alain.verloes@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Drunat</surname><given-names>S&#x000e9;verine</given-names></name><degrees>PharmD, PhD</degrees><email>severine.drunat@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Passemard</surname><given-names>Sandrine</given-names></name><degrees>MD, PhD</degrees><email>sandrine.passemard@aphp.fr</email></contrib></contrib-group><?date-created 20200402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aspm-pm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aspm-pm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aspm-pm\" document-type=\"chapter\" object-id=\"aspm-pm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_asxl3\"><title><italic toggle=\"yes\">ASXL3</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonym: Bainbridge-Ropers Syndrome (BRPS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balasubramanian</surname><given-names>Meena</given-names></name><degrees>MBBS, DCH, FRCPCH, MD</degrees><aff>Sheffield Children's NHS Foundation Trust<break/>University of Sheffield<break/>Sheffield, United Kingdom</aff><email>meena.balasubramanian@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schirwani</surname><given-names>Schaida</given-names></name><degrees>MBChB, MSc, MRCP</degrees><aff>Sheffield Children's NHS Foundation Trust<break/>Sheffield, United Kingdom</aff><email>schaida.schirwani@nhs.net</email></contrib></contrib-group><?date-created 20201105?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_asxl3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_asxl3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"asxl3\" document-type=\"chapter\" object-id=\"asxl3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ataxia-telangiectas\"><title>Ataxia-Telangiectasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Veenhuis</surname><given-names>Stefanie</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Amalia Children&#x02019;s Hospital<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>stefanie.veenhuis@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Os</surname><given-names>Nienke</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Donders Institute for Brain, Cognition and Behaviour;<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>nienke.vanos@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weemaes</surname><given-names>Corry</given-names></name><degrees>MD, PhD</degrees><aff>Amalia Children's Hospital<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>corry.weemaes@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kamsteeg</surname><given-names>Erik-Jan</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>erik-jan.kamsteeg@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Willemsen</surname><given-names>Mich&#x000e8;l</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatric Neurology<break/>Donders Institute for Brain, Cognition and Behaviour;<break/>Amalia Children's Hospital<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>michel.willemsen@radboudumc.nl</email></contrib></contrib-group><?date-created 19990319?><?date-updated 20231005?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ataxia-telangiectas.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Clinical_Characteris\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Clinical_Characteris\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Genetically_Related\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Genetically_Related\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Differential_Diagnos\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Differential_Diagnos\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxia-telangiectas.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxia-telangiectas\" document-type=\"chapter\" object-id=\"ataxia-telangiectas.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aoa2\"><title>Ataxia with Oculomotor Apraxia Type 2</title><subtitle content-type=\"alt-title\">Synonym: AOA2</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moreira</surname><given-names>Maria-Ceu</given-names></name><degrees>MSc, PhD</degrees><aff>Professor of Molecular Biology and Genetics</aff><email>mceums@hotmail.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koenig</surname><given-names>Michel</given-names></name><degrees>MD, PhD</degrees><aff>Laboratoire de G&#x000e9;n&#x000e9;tique de Maladies RaresInstitut Universitaire de Recherche CliniqueUniversit&#x000e9; de MontpellierMontpellier, France</aff><email>michel.koenig@inserm.fr</email></contrib></contrib-group><?date-created 20041115?><?date-updated 20180712?><?date-revised 20090324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aoa2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aoa2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aoa2\" document-type=\"chapter\" object-id=\"aoa2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aved\"><title>Ataxia with Vitamin E Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Ataxia with Isolated Vitamin E Deficiency, AVED</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schuelke</surname><given-names>Markus</given-names></name><degrees>MD</degrees><aff>Department of Neuropediatrics<break/>Charit&#x000e9; &#x00026; NeuroCure Clinical Research Center<break/>Charit&#x000e9; - Universit&#x000e4;tsmedizin Berlin<break/>Berlin, Germany</aff><email>markus.schuelke@charite.de</email></contrib></contrib-group><?date-created 20050520?><?date-updated 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aved.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aved.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aved\" document-type=\"chapter\" object-id=\"aved.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_atm-cpd\"><title><italic toggle=\"yes\">ATM</italic>-Related Cancer Predisposition</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schon</surname><given-names>Katherine Rose</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genomic Medicine<break/>National Institute for Health Research<break/>Cambridge Biomedical Research Centre<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>ks339@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pal</surname><given-names>Tuya</given-names></name><degrees>MD</degrees><aff>Department of Medicine<break/>Vanderbilt University Medical Center<break/>Vanderbilt-Ingram Cancer Center<break/>Nashville, Tennessee</aff><email>tuya.pal@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stewart</surname><given-names>Douglas R</given-names></name><degrees>MD</degrees><aff>Clinical Genetics Branch<break/>Division of Cancer Epidemiology and Genetics<break/>National Cancer Institute<break/>Rockville, Maryland</aff><email>drstewart@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tischkowitz</surname><given-names>Marc</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genomic Medicine<break/>National Institute for Health Research<break/>Cambridge Biomedical Research Centre<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>mdt33@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hanson</surname><given-names>Helen</given-names></name><degrees>MD</degrees><aff>Peninsula Clinical Genetics<break/>Royal Devon University Healthcare NHS Foundation Trust;<break/>Department of Clinical and Biomedical Sciences<break/>University of Exeter Medical School<break/>Exeter, United Kingdom</aff><email>helen.hanson6@nhs.net</email></contrib></contrib-group><?date-created 20260604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_atm-cpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atm-cpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atm-cpd\" document-type=\"chapter\" object-id=\"atm-cpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_atn1-ndd\"><title><italic toggle=\"yes\">ATN1-</italic>Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ATN1</italic>-Related Neurodevelopmental Condition; CHEDDA (Congenital Hypotonia, Epilepsy, Developmental Delay, Digit Abnormalities)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitton</surname><given-names>Chloe</given-names></name><degrees>BMed, MD</degrees><email>whittonchloe@gmail.com</email><email>chloe.whitton@health.nsw.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Palmer</surname><given-names>Elizabeth</given-names></name><degrees>PhD, MBBS, FRACP</degrees><email>elizabeth.palmer@unsw.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkuraya</surname><given-names>Fowzan</given-names></name><degrees>MD, ABP, ABMGG</degrees><email>falkuraya@kfshrc.edu.sa</email></contrib></contrib-group><?date-created 20220825?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_atn1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Genetically_Related_Allelic_Con\"><title>Genetically Related (Allelic) Conditions</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Genetically_Related_Allelic_Con\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_atn1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"atn1-ndd\" document-type=\"chapter\" object-id=\"atn1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rapid-odp\"><title><italic toggle=\"yes\">ATP1A3-</italic>Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brashear</surname><given-names>Allison</given-names></name><degrees>MD</degrees><aff>Vice President for Health Sciences;<break/>Dean, Jacobs School of Medicine and Biomedical Sciences;<break/>Professor, Neurology;<break/>University at Buffalo<break/>Buffalo, New York</aff><email>brashear@buffalo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sweadner</surname><given-names>Kathleen J</given-names></name><degrees>PhD</degrees><aff>Associate Professor, Cellular and Molecular Physiology<break/>Department of Neurosurgery<break/>Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>ksweadner@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haq</surname><given-names>Ihtsham</given-names></name><degrees>MD</degrees><aff>Professor, Department of Neurology<break/>University of Miami Miller School of Medicine<break/>Miami, Florida</aff><email>ihaq@med.miami.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Napoli</surname><given-names>Eleonora</given-names></name><degrees>PhD</degrees><aff>Department of Neurology<break/>School of Medicine<break/>University of California, Davis<break/>Davis, California</aff><email>enapoli@ucdavis.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ozelius</surname><given-names>Laurie</given-names></name><degrees>PhD</degrees><aff>Associate Neuroscientist, Department of Neurology<break/>Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>laurie.ozelius@mgh.harvard.edu</email></contrib></contrib-group><?date-created 20080207?><?date-updated 20241205?><?date-revised 20120913?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rapid-odp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rapid-odp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rapid-odp\" document-type=\"chapter\" object-id=\"rapid-odp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cutis-laxa\"><title><italic toggle=\"yes\">ATP6V0A2</italic>-Related Cutis Laxa</title><subtitle content-type=\"alt-title\">Synonyms: ATP6V0A2-CDG, Autosomal Recessive Cutis Laxa Type 2A (ARCL2A)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Maldergem</surname><given-names>Lionel</given-names></name><degrees>MD, PhD</degrees><aff>Centre de g&#x000e9;n&#x000e9;tique humaine<break/>Universit&#x000e9; de Franche-Comt&#x000e9;<break/>Besan&#x000e7;on, France</aff><email>vmald@skypro.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobyns</surname><given-names>William</given-names></name><degrees>MD</degrees><aff>Seattle Children's Research Institute<break/>Seattle, Washington</aff><email>wbd@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kornak</surname><given-names>Uwe</given-names></name><degrees>MD, PhD</degrees><aff>Institut f&#x000fc;r Humangenetik<break/>Universit&#x000e4;tsmedizin G&#x000f6;ttingen<break/>G&#x000f6;ttingen, Germany</aff><email>uwe.kornak@med.uni-goettingen.de</email></contrib></contrib-group><?date-created 20090319?><?date-updated 20210128?><?date-revised 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cutis-laxa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cutis-laxa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cutis-laxa\" document-type=\"chapter\" object-id=\"cutis-laxa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_menkes\"><title><italic toggle=\"yes\">ATP7A</italic>-Related Copper Transport Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaler</surname><given-names>Stephen G</given-names></name><degrees>MD, MPH</degrees><aff>CAPT, US Public Health Service (Ret)<break/>Professor of Pediatrics and Genetics<break/>The Ohio State University College of Medicine;<break/>Center for Gene Therapy<break/>Abigail Wexner Research Institute<break/>Nationwide Children&#x02019;s Hospital<break/>Columbus, Ohio</aff><email>stephen.kaler@nationwidechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>DiStasio</surname><given-names>Andrew T</given-names></name><degrees>PhD</degrees><aff>Center for Gene Therapy<break/>Abigail Wexner Research Institute<break/>Nationwide Children&#x02019;s Hospital<break/>Columbus, Ohio</aff><email>andrew.distasio@nationwidechildrens.org</email></contrib></contrib-group><?date-created 20030509?><?date-updated 20210415?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_menkes.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_menkes.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"menkes\" document-type=\"chapter\" object-id=\"menkes.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pfic\"><title>ATP8B1 Deficiency</title><subtitle content-type=\"alt-title\">Synonym: FIC1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bull</surname><given-names>Laura N</given-names></name><degrees>PhD</degrees><aff>Liver Center Laboratory and Institute for Human Genetics<break/>Department of Medicine<break/>University of California, San Francisco<break/>San Francisco, California</aff><email>laura.bull@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morotti</surname><given-names>Raffaella</given-names></name><degrees>MD</degrees><aff>Department of Pathology<break/>Yale School of Medicine<break/>New Haven, Connecticut</aff><email>raffaella.morotti@yale.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Squires</surname><given-names>James E</given-names></name><degrees>MD, MS</degrees><aff>UPMC Children's Hospital of Pittsburgh<break/>Department of Pediatric Gastroenterology and Hepatology<break/>Pittsburgh, Pennsylvania</aff><email>james.squires2@chp.edu</email></contrib></contrib-group><?date-created 20011015?><?date-updated 20210909?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pfic.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfic.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfic\" document-type=\"chapter\" object-id=\"pfic.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_au-kline\"><title>Au-Kline Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">HNRNPK</italic>-Related Neurodevelopmental Disorder, Au-Kline-Okamoto Syndrome, Okamoto Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Au</surname><given-names>Ping-Yee Billie</given-names></name><degrees>MD, PhD, FRCPC, FCCMG</degrees><email>billie.au@ahs.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McNiven</surname><given-names>Vanda</given-names></name><degrees>MD, MSc, FRCPC</degrees><email>mcnivenv@mcmaster.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phillips</surname><given-names>Lindsay</given-names></name><degrees>PhD</degrees><email>lindsay.phillips@ahs.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Innes</surname><given-names>A Micheil</given-names></name><degrees>MD, FRCPC, FCCMG</degrees><email>micheil.innes@ahs.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kline</surname><given-names>Antonie D</given-names></name><degrees>MD, FACMG, FAAP</degrees><email>akline@gbmc.org</email></contrib></contrib-group><?date-created 20190418?><?date-updated 20240201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_au-kline.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_au-kline.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"au-kline\" document-type=\"chapter\" object-id=\"au-kline.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alps\"><title>Autoimmune Lymphoproliferative Syndrome</title><subtitle content-type=\"alt-title\">Synonym: ALPS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bleesing</surname><given-names>Jack JH</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Pediatrics, Division of Bone Marrow Transplantation &#x00026; Immune DeficiencyCincinnati Children's HospitalCincinnati, Ohio</aff><email>jack.bleesing@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagaraj</surname><given-names>Chinmayee B</given-names></name><degrees>MS, CGC</degrees><aff>Genetic Counselor, Division of Human GeneticsCincinnati Children's HospitalCincinnati, Ohio</aff><email>chinmayee.bhimarao@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhang</surname><given-names>Kejian</given-names></name><degrees>MD, MBA</degrees><aff>Associate Professor of Pediatrics, Division of Human GeneticsCincinnati Children's HospitalCincinnati, Ohio</aff><email>kejian.zhang@cchmc.org</email></contrib></contrib-group><?date-created 20060914?><?date-updated 20170824?><?date-revised 20070709?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alps\" document-type=\"chapter\" object-id=\"alps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cranio-md\"><title>Autosomal Dominant Craniometaphyseal Dysplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reichenberger</surname><given-names>Ernst</given-names></name><degrees>PhD</degrees><aff>Professor, Department of Regenerative Medicine and Skeletal Development<break/>UConn Health (UCH)<break/>Farmington, Connecticut</aff><email>reichenberger@uchc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>I-Ping</given-names></name><degrees>DDS, MS, PhD</degrees><aff>Professor, Department of Endodontology<break/>UConn Health (UCH)<break/>Farmington, Connecticut</aff><email>ipchen@uchc.edu</email></contrib></contrib-group><?date-created 20070827?><?date-updated 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cranio-md.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cranio-md.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cranio-md\" document-type=\"chapter\" object-id=\"cranio-md.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_peaf\"><title>Autosomal Dominant Epilepsy with Auditory Features</title><subtitle content-type=\"alt-title\">Synonyms: ADEAF, Autosomal Dominant Lateral Temporal Lobe Epilepsy, Autosomal Dominant Partial Epilepsy with Auditory Features</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Michelucci</surname><given-names>Roberto</given-names></name><degrees>MD, PhD</degrees><email>roberto.michelucci@isnb.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pasini</surname><given-names>Elena</given-names></name><degrees>MD</degrees><email>elena.pasini@isnb.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dazzo</surname><given-names>Emanuela</given-names></name><degrees>PhD</degrees><email>emanuela.dazzo@cnr.it</email></contrib></contrib-group><?date-created 20070420?><?date-updated 20240509?><?date-revised 20070926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_peaf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peaf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peaf\" document-type=\"chapter\" object-id=\"peaf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rob-ad\"><title>Autosomal Dominant Robinow Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Fetal Face Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roifman</surname><given-names>Maian</given-names></name><degrees>MD</degrees><aff>Division of Clinical and Metabolic Genetics<break/>Department of Paediatrics<break/>The Hospital for Sick Children;<break/>Prenatal Diagnosis and Medical Genetics Program<break/>Department of Obstetrics and Gynecology<break/>Mount Sinai Hospital;<break/>University of Toronto<break/>Toronto, Canada</aff><email>maian.roifman@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brunner</surname><given-names>Han</given-names></name><degrees>MD</degrees><aff>Department of Human Genetics<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>han.brunner@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lohr</surname><given-names>Jamie</given-names></name><degrees>MD</degrees><aff>Division of Pediatric Cardiology<break/>Adult Congenital and Cardiovascular Genetics Program<break/>University of Minnesota Amplatz Children's Hospital<break/>Minneapolis, Minnesota</aff><email>lohrx003@umn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mazzeu</surname><given-names>Juliana</given-names></name><degrees>PhD</degrees><aff>Division of Clinical Medicine<break/>Faculty of Medicine<break/>University of Bras&#x000ed;lia<break/>Bras&#x000ed;lia, Brazil</aff><email>julianamazzeu@pq.cnpq.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chitayat</surname><given-names>David</given-names></name><degrees>MD</degrees><aff>Prenatal Diagnosis and Medical Genetics Program<break/>Department of Obstetrics and Gynecology<break/>Mount Sinai Hospital;<break/>Division of Clinical and Metabolic Genetics<break/>Department of Paediatrics<break/>The Hospital for Sick Children;<break/>University of Toronto<break/>Toronto, Canada</aff><email>dchitayat@mtsinai.on.ca</email></contrib></contrib-group><?date-created 20150108?><?date-updated 20180809?><?date-revised 20191003?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rob-ad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob-ad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob-ad\" document-type=\"chapter\" object-id=\"rob-ad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_adnfle\"><title>Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</title><subtitle content-type=\"alt-title\">Synonym: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), ADSHE</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurahashi</surname><given-names>Hirokazu</given-names></name><degrees>MD, PhD</degrees><aff>Aichi Medical University<break/>Nagakute, Japan</aff><email>kurahashi.hirokazu.736@mail.aichi-med-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hirose</surname><given-names>Shinichi</given-names></name><degrees>MD, PhD</degrees><aff>Fukuoka University<break/>Fukuoka, Japan</aff><email>hirose@fukuoka-u.ac.jp</email></contrib></contrib-group><?date-created 20020516?><?date-updated 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_adnfle.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_adnfle.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"adnfle\" document-type=\"chapter\" object-id=\"adnfle.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmt2c\"><title>Autosomal Dominant <italic toggle=\"yes\">TRPV4-</italic>Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McCray</surname><given-names>Brett A</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>bmccray@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schindler</surname><given-names>Alice</given-names></name><degrees>MS, CGC</degrees><aff>National Institute of Neurological Disorders and Stroke, Neurogenetics Branch<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>schindlerab@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoover-Fong</surname><given-names>Julie E</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genetic Medicine<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>jhoover2@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sumner</surname><given-names>Charlotte J</given-names></name><degrees>MD</degrees><aff>Departments of Neurology, Neuroscience, and Genetic Medicine<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>csumner1@jhmi.edu</email></contrib></contrib-group><?date-created 20140515?><?date-updated 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmt2c.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2c.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2c\" document-type=\"chapter\" object-id=\"cmt2c.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mckd1\"><title>Autosomal Dominant Tubulointerstitial Kidney Disease &#x02013; <italic toggle=\"yes\">MUC1</italic></title><subtitle content-type=\"alt-title\">Synonyms: ADTKD-<italic toggle=\"yes\">MUC1</italic>, Medullary Cystic Kidney Disease Type 1 (MCKD1), <italic toggle=\"yes\">MUC1</italic> Kidney Disease (MKD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bleyer</surname><given-names>Anthony J</given-names></name><degrees>MD, MS</degrees><email>ableyer@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>&#x0017d;ivn&#x000e1;</surname><given-names>Martina</given-names></name><degrees>PhD</degrees><email>mzivna@lf1.cuni.cz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kidd</surname><given-names>Kendrah</given-names></name><degrees>MS</degrees><email>kkidd@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kmoch</surname><given-names>Stanislav</given-names></name><degrees>PhD</degrees><email>skmoch@lf1.cuni.cz</email></contrib></contrib-group><?date-created 20130815?><?date-updated 20211021?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mckd1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd1\" document-type=\"chapter\" object-id=\"mckd1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyper-nfj2\"><title>Autosomal Dominant Tubulointerstitial Kidney Disease &#x02013; <italic toggle=\"yes\">REN</italic></title><subtitle content-type=\"alt-title\">Synonyms: ADTKD-<italic toggle=\"yes\">REN</italic>, Familial Juvenile Hyperuricemic Nephropathy Type 2 (FJHN2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>&#x0017d;ivn&#x000e1;</surname><given-names>Martina</given-names></name><degrees>PhD</degrees><email>mzivna@lf1.cuni.cz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kidd</surname><given-names>Kendrah</given-names></name><degrees>MS</degrees><email>kkidd@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kmoch</surname><given-names>Stanislav</given-names></name><degrees>PhD</degrees><email>skmoch@lf1.cuni.cz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bleyer</surname><given-names>Anthony J</given-names></name><degrees>MD, MS</degrees><email>ableyer@wakehealth.edu</email></contrib></contrib-group><?date-created 20110405?><?date-updated 20201210?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyper-nfj2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-nfj2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-nfj2\" document-type=\"chapter\" object-id=\"hyper-nfj2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mckd2\"><title>Autosomal Dominant Tubulointerstitial Kidney Disease &#x02013; <italic toggle=\"yes\">UMOD</italic></title><subtitle content-type=\"alt-title\">Synonyms: ADTKD-<italic toggle=\"yes\">UMOD</italic>, Uromodulin Kidney Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bleyer</surname><given-names>Anthony J</given-names></name><degrees>MD, MS</degrees><aff>Section on Nephrology\nWake Forest University School of Medicine\nWinston-Salem, North Carolina</aff><email>ableyer@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kidd</surname><given-names>Kendrah</given-names></name><degrees>MS</degrees><aff>Section on Nephrology\nWake Forest University School of Medicine\nWinston-Salem, North Carolina</aff><email>kkidd@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>&#x0017d;ivn&#x000e1;</surname><given-names>Martina</given-names></name><degrees>PhD</degrees><aff>Research Unit of Rare Diseases\nDepartment of Paediatrics and Inherited Metabolic Disorders\nFirst Faculty of Medicine\nCharles University\nPrague, Czech Republic</aff><email>mzivna@lf1.cuni.cz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kmoch</surname><given-names>Stanislav</given-names></name><degrees>PhD</degrees><aff>Research Unit of Rare Diseases\nDepartment of Paediatrics and Inherited Metabolic Disorders\nFirst Faculty of Medicine\nCharles University\nPrague, Czech Republic</aff><email>skmoch@lf1.cuni.cz</email></contrib></contrib-group><?date-created 20070112?><?date-updated 20210408?><?date-revised 20211223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mckd2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mckd2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mckd2\" document-type=\"chapter\" object-id=\"mckd2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_li-ar\"><title>Autosomal Recessive Congenital Ichthyosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Richard</surname><given-names>Gabriele</given-names></name><degrees>MD, FACMG</degrees><aff>Medical Director, GeneDx, Inc<break/>Gaithersburg, Maryland</aff><email>grichard@genedx.com</email></contrib></contrib-group><?date-created 20010110?><?date-updated 20230420?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_li-ar.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Clinical_Characteristics_of_Autoso\"><title> Clinical Characteristics of Autosomal Recessive Congenital Ichthyosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Clinical_Characteristics_of_Autoso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Genetic_Causes_of_Autosomal_Recess\"><title> Genetic Causes of Autosomal Recessive Congenital Ichthyosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Genetic_Causes_of_Autosomal_Recess\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Differential_Diagnosis_of_Autosoma\"><title> Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Differential_Diagnosis_of_Autosoma\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Evaluation_Strategies_to_Identify\"><title> Evaluation Strategies to Identify the Genetic Cause of Autosomal Recessive Congenital Ichthyosis in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Evaluation_Strategies_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-ar.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-ar\" document-type=\"chapter\" object-id=\"li-ar.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pkd-ar\"><title>Autosomal Recessive Polycystic Kidney Disease&#x000a0;&#x02013;&#x000a0;<italic toggle=\"yes\">PKHD1</italic></title><subtitle content-type=\"alt-title\">Synonym: ARPKD-<italic toggle=\"yes\">PKHD1</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burgmaier</surname><given-names>Kathrin</given-names></name><degrees>MD</degrees><email>kathrin.burgmaier@uk-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gimpel</surname><given-names>Charlotte</given-names></name><degrees>MD</degrees><email>charlotte.gimpel@glkn.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaefer</surname><given-names>Franz</given-names></name><degrees>MD</degrees><email>franz.schaefer@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Liebau</surname><given-names>Max</given-names></name><degrees>MD</degrees><email>max.liebau@uk-koeln.de</email></contrib></contrib-group><?date-created 20010719?><?date-updated 20240404?><?date-revised 20190214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pkd-ar.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ar.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ar\" document-type=\"chapter\" object-id=\"pkd-ar.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rpe65-lca\"><title>Autosomal Recessive <italic toggle=\"yes\">RPE65</italic>-Related Retinal Degeneration</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive <italic toggle=\"yes\">RPE65</italic>-RD, <italic toggle=\"yes\">RPE65</italic> Mutation-Associated Retinal Degeneration (<italic toggle=\"yes\">RPE65</italic>-IRD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koritala</surname><given-names>Brooke A</given-names></name><degrees>BS, BA</degrees><email>bkoritala@rfsw.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pennesi</surname><given-names>Mark</given-names></name><degrees>MD, PhD</degrees><email>pennesi@retinafoundation.org</email></contrib></contrib-group><?date-created 20191114?><?date-updated 20260108?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rpe65-lca.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Scope\"><title>Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rpe65-lca.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rpe65-lca\" document-type=\"chapter\" object-id=\"rpe65-lca.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ayme-gripp\"><title>Aym&#x000e9;-Gripp Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Amudhavalli</surname><given-names>Shivarajan Manickavasagam</given-names></name><degrees>MD</degrees><email>samudhavalli@cmh.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gadea</surname><given-names>Randi</given-names></name><degrees>MS</degrees><email>rngadea@cmh.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gripp</surname><given-names>Karen</given-names></name><degrees>MD</degrees><email>kgripp@nemours.org</email></contrib></contrib-group><?date-created 20200206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ayme-gripp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ayme-gripp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ayme-gripp\" document-type=\"chapter\" object-id=\"ayme-gripp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-B?><toc-entry id=\"toc_bachmann-bupp\"><title>Bachmann-Bupp Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">ODC1</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bupp</surname><given-names>Caleb</given-names></name><degrees>MD, FACMG</degrees><email>caleb.bupp@spectrumhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Michael</surname><given-names>Julianne</given-names></name><degrees>MS, LCGC</degrees><email>julianne.michael@spectrumhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>VanSickle</surname><given-names>Elizabeth</given-names></name><degrees>MS</degrees><email>elizabeth.vansickle@spectrumhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rajasekaran</surname><given-names>Surender</given-names></name><degrees>MD, MPH</degrees><email>surender.rajasekaran@spectrumhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bachmann</surname><given-names>Andr&#x000e9; Stephan</given-names></name><degrees>MS, PHD</degrees><email>bachma26@msu.edu</email></contrib></contrib-group><?date-created 20220825?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bachmann-bupp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bachmann-bupp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bachmann-bupp\" document-type=\"chapter\" object-id=\"bachmann-bupp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bgs\"><title>Baller-Gerold Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Maldergem</surname><given-names>Lionel</given-names></name><degrees>MD, PhD</degrees><aff>Centre de G&#x000e9;n&#x000e9;tique Humaine<break/>Universit&#x000e9; de Franche-Comt&#x000e9;<break/>Besan&#x000e7;on, France</aff><email>vmald@skypro.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Piard</surname><given-names>Juliette</given-names></name><degrees>MD</degrees><aff>Clinical Geneticist, P&#x000f4;le Biologie et Anatomie Pathologique<break/>CHRU de Besan&#x000e7;on &#x02013; H&#x000f4;pital Saint-Jacques<break/>Besan&#x000e7;on, France</aff><email>jpiard@chu-besancon.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Larizza</surname><given-names>Lidia</given-names></name><degrees>MD</degrees><aff>Research Director, Laboratory of Medical Cytogenetics and Genetics<break/>IRCSS Istituto Auxologico Italiano<break/>Milan, Italy</aff><email>l.larizza@auxologico.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Lisa L</given-names></name><degrees>MD</degrees><aff>Associate Professor, Division of Hematology/Oncology<break/>Department of Pediatrics<break/>Texas Children's Hospital<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>llwang@bcm.edu</email></contrib></contrib-group><?date-created 20070813?><?date-updated 20180419?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bgs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgs\" document-type=\"chapter\" object-id=\"bgs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bap1-tpds\"><title><italic toggle=\"yes\">BAP1</italic> Tumor Predisposition Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">BAP1</italic> Cancer Syndrome; Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms (COMMON Syndrome)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pilarski</surname><given-names>Robert</given-names></name><degrees>MS, LGC, MSW</degrees><email>rpilarski@ambrygen.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Byrne</surname><given-names>Lindsey</given-names></name><degrees>MS, CGC</degrees><email>lindsey.byrne@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carlo</surname><given-names>Maria I</given-names></name><degrees>MD</degrees><email>carlom@mskcc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hanson</surname><given-names>Helen</given-names></name><degrees>MD</degrees><email>helen.hanson6@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cebulla</surname><given-names>Colleen</given-names></name><degrees>MD, PhD</degrees><email>colleen.cebulla@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abdel-Rahman</surname><given-names>Mohamed</given-names></name><degrees>MD, PhD</degrees><email>mohamed.abdel-rahman@osumc.edu</email></contrib></contrib-group><?date-created 20161013?><?date-updated 20241205?><?date-revised 20220324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bap1-tpds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bap1-tpds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bap1-tpds\" document-type=\"chapter\" object-id=\"bap1-tpds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_baraitser-winter\"><title>Baraitser-Winter Cerebrofrontofacial Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Verloes</surname><given-names>Alain</given-names></name><degrees>MD, PhD</degrees><aff>Universit&#x000e9; Paris Cit&#x000e9;;<break/>Department of Genetics<break/>APHP-H&#x000f4;pital Robert Debr&#x000e9;<break/>Paris, France</aff><email>alain.verloes@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Drunat</surname><given-names>S&#x000e9;verine</given-names></name><degrees>PharmD, PhD</degrees><aff>Department of Genetics<break/>APHP-H&#x000f4;pital Robert Debr&#x000e9;<break/>Paris, France</aff><email>severine.drunat@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pilz</surname><given-names>Daniela</given-names></name><degrees>MD, PhD</degrees><aff>Institute of Medical Genetics<break/>University Hospital of Wales<break/>Cardiff, United Kingdom</aff><email>pilzdt@cf.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Di Donato</surname><given-names>Nataliya</given-names></name><degrees>MD, PhD</degrees><aff>Institut f&#x000fc;r Klinische Genetik<break/>Universit&#x000e4;tsklinikum Carl Gustav Carus<break/>Dresden, Germany</aff><email>nataliya.didonato@uniklinikum-dresden.de</email></contrib></contrib-group><?date-created 20151119?><?date-updated 20220324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_baraitser-winter.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_baraitser-winter.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"baraitser-winter\" document-type=\"chapter\" object-id=\"baraitser-winter.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bbs\"><title>Bardet-Biedl Syndrome Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Forsyth</surname><given-names>RaeLynn</given-names></name><degrees>MD</degrees><email>rforsyt2@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gunay-Aygun</surname><given-names>Meral</given-names></name><degrees>MD</degrees><email>mgunaya1@jhmi.edu</email></contrib></contrib-group><?date-created 20030714?><?date-updated 20200723?><?date-revised 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Clinical_Characteristics_of_BardetBi\"><title> Clinical Characteristics of Bardet-Biedl Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Clinical_Characteristics_of_BardetBi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Causes_of_BardetBiedl_Syndrome\"><title> Causes of Bardet-Biedl Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Causes_of_BardetBiedl_Syndrome\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Bardet-Biedl Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Management_of_BardetBiedl_Syndrome\"><title> Management of Bardet-Biedl Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Management_of_BardetBiedl_Syndrome\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Genetic_Counseling_of_Family_Members\"><title> Genetic Counseling of Family Members of an Individual with Bardet-Biedl Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Genetic_Counseling_of_Family_Members\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bbs\" document-type=\"chapter\" object-id=\"bbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_barth\"><title>Barth Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: 3-Methylglutaconic Aciduria Type II, BTHS, TAFAZZIN Deficiency, TAZ Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos</given-names></name><degrees>MD</degrees><aff>Unit on Skeletal Genomics<break/>Eunice Kennedy Shriver National Institute of Child Health and Human Development<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>ferreiracr@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pierre</surname><given-names>Germaine</given-names></name><degrees>MBBS, MRCPCH, MSc</degrees><aff>Pediatric Metabolic Consultant<break/>Bristol Royal Hospital for Children<break/>Bristol, United Kingdom</aff><email>germaine.pierre@uhbw.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thompson</surname><given-names>Reid</given-names></name><degrees>MD</degrees><aff>Associate Professor, Pediatric Cardiology<break/>Johns Hopkins University<break/>Baltimore, Maryland</aff><email>thompson@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vernon</surname><given-names>Hilary</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Departments of Genetic Medicine and Pediatrics<break/>Johns Hopkins University<break/>Baltimore, Maryland</aff><email>hvernon1@jhmi.edu</email></contrib></contrib-group><?date-created 20141009?><?date-updated 20260108?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_barth.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_barth.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"barth\" document-type=\"chapter\" object-id=\"barth.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bcl11a-id\"><title><italic toggle=\"yes\">BCL11A</italic>-Related Intellectual Disability</title><subtitle content-type=\"alt-title\">Synonyms: Dias-Logan Syndrome, Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Peron</surname><given-names>Angela</given-names></name><degrees>MD</degrees><email>angela.peron@unimi.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bradbury</surname><given-names>Kimberley</given-names></name><degrees>BA, MBBS, MA</degrees><email>kimberley.bradbury@gosh.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Viskochil</surname><given-names>David H</given-names></name><degrees>MD, PhD</degrees><email>dave.viskochil@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dias</surname><given-names>Cristina</given-names></name><degrees>MD, PhD</degrees><email>cristina.dias@kcl.ac.uk</email></contrib></contrib-group><?date-created 20190926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bcl11a-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcl11a-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcl11a-id\" document-type=\"chapter\" object-id=\"bcl11a-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bws\"><title>Beckwith-Wiedemann Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Wiedemann-Beckwith Syndrome, Beckwith-Wiedemann Spectrum (BWSp)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shuman</surname><given-names>Cheryl</given-names></name><degrees>MS, CGC</degrees><aff>Professor, Molecular Genetics<break/>University of Toronto<break/>Toronto, Ontario</aff><email>cheryl.shuman@utoronto.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalish</surname><given-names>Jennifer M</given-names></name><degrees>MD, PhD</degrees><aff>Attending Physician<break/>Research Scientist<break/>Children's Hospital of Philadelphia;<break/>Assistant Professor of Pediatrics and Genetics<break/>Perelman School of Medicine at the University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>kalishj@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weksberg</surname><given-names>Rosanna</given-names></name><degrees>MD, PhD, FRCPC, FCCMG, FACMG</degrees><aff>Geneticist, Clinical and Metabolic Genetics<break/>Senior Associate Scientist, Research Institute<break/>The Hospital for Sick Children;<break/>Professor, Department of Pediatrics<break/>University of Toronto<break/>Toronto, Ontario</aff><email>rweksb@sickkids.ca</email></contrib></contrib-group><?date-created 20000303?><?date-updated 20230608?><?date-revised 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bws.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bws.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bws\" document-type=\"chapter\" object-id=\"bws.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bvd\"><title>Bestrophinopathies</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Ian M</given-names></name><degrees>MDCM, MSc</degrees><aff>Department of Ophthalmology\nUniversity of Alberta<break/>Edmonton, Alberta, Canada</aff><email>macdonal@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Thomas</given-names></name><degrees>MD, MSc</degrees><aff>Department of Ophthalmology\nUniversity of Ottawa<break/>Ottawa, Ontario, Canada</aff><email>thomaslee@toh.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lawrence</surname><given-names>Jessica</given-names></name><degrees>MSc</degrees><aff>Alberta Health Services<break/>Edmonton, Alberta, Canada</aff><email>jessica.lawrence2@ahs.ca</email></contrib></contrib-group><?date-created 20030930?><?date-updated 20200716?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bvd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bvd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bvd\" document-type=\"chapter\" object-id=\"bvd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_b-mannosidosis\"><title>Beta-Mannosidosis</title><subtitle content-type=\"alt-title\">Synonyms: &#x003b2;-Mannosidosis, Beta-Mannosidase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Martin Rios</surname><given-names>Angela</given-names></name><degrees>MD</degrees><aff>Stead Family Department of Pediatrics<break/>University of Iowa<break/>Iowa City, Iowa</aff><email>angela-martin@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kimonis</surname><given-names>Virginia</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Division of Genetics and Genomic Medicine<break/>University of California Irvine Medical Center<break/>Orange, California</aff><email>vkimonis@hs.uci.edu</email></contrib></contrib-group><?date-created 20260519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_b-mannosidosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-mannosidosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-mannosidosis\" document-type=\"chapter\" object-id=\"b-mannosidosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bpan\"><title>Beta-Propeller Protein-Associated Neurodegeneration</title><subtitle content-type=\"alt-title\">Synonyms: BPAN, Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS</degrees><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haack</surname><given-names>Tobias</given-names></name><degrees>MD</degrees><email>tobias.haack@helmholtz-muenchen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><email>hayflick@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hogarth</surname><given-names>Penelope</given-names></name><degrees>MD</degrees><email>hogarthp@ohsu.edu</email></contrib></contrib-group><?date-created 20170216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bpan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpan\" document-type=\"chapter\" object-id=\"bpan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_b-thal\"><title>Beta-Thalassemia</title><subtitle content-type=\"alt-title\">Synonyms: Cooley's Anemia, Mediterranean Anemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Langer</surname><given-names>Arielle L</given-names></name><degrees>MD, MPH</degrees><aff>Director, Thalassemia Program<break/>Division of Hematology<break/>Brigham and Women's Hospital<break/>Boston, Massachusetts</aff><email>alanger@bwh.harvard.edu</email></contrib></contrib-group><?date-created 20000928?><?date-updated 20230720?><?date-revised 20260212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_b-thal.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_b-thal.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"b-thal\" document-type=\"chapter\" object-id=\"b-thal.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bietti-cd\"><title>Bietti Crystalline Dystrophy</title><subtitle content-type=\"alt-title\">Synonyms: Bietti Crystalline Corneoretinal Dystrophy, Bietti Crystalline Retinopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vargas</surname><given-names>Mauricio</given-names></name><degrees>MD, PhD</degrees><email>vargasma@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mitchell</surname><given-names>Amanda</given-names></name><degrees>MS, CGC</degrees><email>mitcheam@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yang</surname><given-names>Paul</given-names></name><degrees>MD, PhD</degrees><email>yangp@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weleber</surname><given-names>Richard</given-names></name><degrees>MD, DABMG, FACMG</degrees><email>weleberr@ohsu.edu</email></contrib></contrib-group><?date-created 20120412?><?date-updated 20190207?><?date-revised 20120614?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bietti-cd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bietti-cd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bietti-cd\" document-type=\"chapter\" object-id=\"bietti-cd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_biotin\"><title>Biotinidase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Late-Onset Multiple Carboxylase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolf</surname><given-names>Barry</given-names></name><degrees>MD, PhD</degrees><email>barrywolf1@comcast.net</email></contrib></contrib-group><?date-created 20000324?><?date-updated 20230525?><?date-revised 20260219?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_biotin.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_biotin.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"biotin\" document-type=\"chapter\" object-id=\"biotin.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bgd-biotin\"><title>Biotin-Thiamine-Responsive Basal Ganglia Disease</title><subtitle content-type=\"alt-title\">Synonyms: Biotin-Responsive Basal Ganglia Disease (BBGD), BTBGD, BTRBGD, Thiamine Metabolism Dysfunction Syndrome 2, Thiamine Transporter-2 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tabarki</surname><given-names>Brahim</given-names></name><degrees>MD</degrees><email>btabarki@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Al-Hashem</surname><given-names>Amal</given-names></name><degrees>MD</degrees><email>malhashema@moh.gov.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ortigoza-Escobar</surname><given-names>Juan Dar&#x000ed;o</given-names></name><degrees>MD, PhD</degrees><email>juandario.ortigoza@sjd.es</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alsharhan</surname><given-names>Hind</given-names></name><degrees>MD</degrees><email>hind.alsharhan@ku.edu.kw</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alfadhel</surname><given-names>Majid</given-names></name><degrees>MD, MHSc, FCCMG</degrees><email>dralfadhelm@gmail.com</email></contrib></contrib-group><?date-created 20131121?><?date-updated 20250109?><?date-revised 20200820?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bgd-biotin.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgd-biotin.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgd-biotin\" document-type=\"chapter\" object-id=\"bgd-biotin.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bhd\"><title>Birt-Hogg-Dub&#x000e9; Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Hornstein-Knickenberg Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sattler</surname><given-names>Elke C</given-names></name><degrees>MD</degrees><aff>Department of Dermatology and Allergology<break/>University Hospital<break/>LMU Munich<break/>Munich, Germany</aff><email>elke.sattler@med.uni-muenchen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steinlein</surname><given-names>Ortrud K</given-names></name><degrees>MD</degrees><aff>Institute of Human Genetics<break/>University Hospital<break/>LMU Munich<break/>Munich, Germany</aff><email>ortrud.steinlein@med.uni-muenchen.de</email></contrib></contrib-group><?date-created 20060227?><?date-updated 20241205?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bhd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bhd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bhd\" document-type=\"chapter\" object-id=\"bhd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bpes\"><title>Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Blepharophimosis Syndrome, BPES</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Matton</surname><given-names>Charlotte</given-names></name><degrees>MSc</degrees><email>charlotte.matton@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thomaes</surname><given-names>Arnaud</given-names></name><degrees>BSc</degrees><email>arnaud.thomaes@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cools</surname><given-names>Martine</given-names></name><degrees>MD, PhD</degrees><email>martine.cools@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Verdin</surname><given-names>Hannah</given-names></name><degrees>MSc, PhD</degrees><email>hannah.verdin@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Baere</surname><given-names>Elfride</given-names></name><degrees>MD, PhD</degrees><email>elfride.debaere@ugent.be</email></contrib></contrib-group><?date-created 20040708?><?date-updated 20260623?><?date-revised 20060215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bpes.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bpes.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bpes\" document-type=\"chapter\" object-id=\"bpes.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bloom\"><title>Bloom Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Langer</surname><given-names>Katherine</given-names></name><degrees>BA</degrees><email>kjl4002@med.cornell.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cunniff</surname><given-names>Christopher M</given-names></name><degrees>MD, FACMG</degrees><email>cmc9039@med.cornell.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kucine</surname><given-names>Nicole</given-names></name><degrees>MD, MS</degrees><email>nik9015@med.cornell.edu</email></contrib></contrib-group><?date-created 20060322?><?date-updated 20231012?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bloom.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bloom.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bloom\" document-type=\"chapter\" object-id=\"bloom.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bohring-opitz\"><title>Bohring-Opitz Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Oberklaid-Danks Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Russell</surname><given-names>Bianca</given-names></name><degrees>MD</degrees><aff>Cincinnati Children's Hospital<break/>Cincinnati, Ohio</aff><email>bianca.russell@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tan</surname><given-names>Wen-Hann</given-names></name><degrees>BMBS</degrees><aff>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>wen-hann.tan@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Graham</surname><given-names>John M</given-names><suffix>Jr</suffix></name><degrees>MD, ScD</degrees><aff>Cedars Sinai Medical Center Department of Pediatrics<break/>Harbor-UCLA Medical Center<break/>Emeritus Professor of Pediatrics, David Geffen School of Medicine at UCLA<break/>Los Angeles, California</aff><email>john.graham@cshs.org</email></contrib></contrib-group><?date-created 20180215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bohring-opitz.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bohring-opitz.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bohring-opitz\" document-type=\"chapter\" object-id=\"bohring-opitz.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bofs\"><title>Branchiooculofacial Syndrome</title><subtitle content-type=\"alt-title\">Synonym: BOF Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haldeman-Englert</surname><given-names>Chad R</given-names></name><degrees>MD</degrees><aff>Cone Health<break/>Greensboro, North Carolina</aff><email>chad.haldemanenglert@conehealth.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lin</surname><given-names>Angela E</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Genetics Unit<break/>Massachusetts General Hospital for Children<break/>Boston, Massachusetts</aff><email>lin.angela@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milunsky</surname><given-names>Jeff M</given-names></name><degrees>MD, FACMG</degrees><aff>Director, Clinical Genetics<break/>Senior Director, Molecular Genetics<break/>Co-Director, Center for Human Genetics, Inc<break/>Cambridge, Massachusetts</aff><email>jmilunsky@chginc.org</email></contrib></contrib-group><?date-created 20110531?><?date-updated 20230928?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bofs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bofs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bofs\" document-type=\"chapter\" object-id=\"bofs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bor\"><title>Branchiootorenal Spectrum Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><aff>Director, Molecular Otolaryngology and Renal Research Laboratories<break/>Director, Iowa Institute of Human Genetics<break/>Sterba Hearing Research Professor of Otolaryngology<break/>Professor of Otolaryngology, Pediatrics, and Internal Medicine, Division of Nephrology<break/>Carver College of Medicine<break/>University of Iowa<break/>Iowa City, Iowa</aff><email>richard-smith@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Azaiez</surname><given-names>Hela</given-names></name><degrees>PhD</degrees><aff>Assistant Professor, Department of Medical &#x00026; Molecular Genetics<break/>University of Indiana School of Medicine<break/>Indianapolis, Indiana</aff><email>hazaiez@iu.edu</email></contrib></contrib-group><?date-created 19990319?><?date-updated 20250626?><?date-revised 20080327?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bor.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bor.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bor\" document-type=\"chapter\" object-id=\"bor.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_brca1\"><title><italic toggle=\"yes\">BRCA1-</italic> and <italic toggle=\"yes\">BRCA2</italic>-Associated Hereditary Breast and Ovarian Cancer</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">BRCA1</italic>- and <italic toggle=\"yes\">BRCA2</italic>-Associated HBOC</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Petrucelli</surname><given-names>Nancie</given-names></name><degrees>MS</degrees><aff>Wayne State University School of Medicine/Detroit Medical Center;Cancer Genetic Counseling ServiceKarmanos Cancer InstituteDetroit, Michigan</aff><email>petrucel@karmanos.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Daly</surname><given-names>Mary B</given-names></name><degrees>MD, PhD</degrees><aff>Chair, Department of Clinical GeneticsFox Chase Cancer CenterPhiladelphia, Pennsylvania</aff><email>mary.daly@fccc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pal</surname><given-names>Tuya</given-names></name><degrees>MD</degrees><aff>Vanderbilt-Ingram Cancer CenterNashville, Tennessee</aff><email>tuya.pal@vumc.org</email></contrib></contrib-group><?date-created 19980904?><?date-updated 20220203?><?date-revised 20260325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_brca1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brca1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brca1\" document-type=\"chapter\" object-id=\"brca1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_brugada\"><title>Brugada Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Sudden Unexpected Nocturnal Death Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brugada</surname><given-names>Ramon</given-names></name><degrees>MD, PhD</degrees><aff>Girona Institute of Biomedical Research (IDIBGI), CIBERCV, and School of Medicine<break/>University of Girona<break/>Girona, Spain</aff><email>ramon@brugada.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Campuzano</surname><given-names>Oscar</given-names></name><degrees>BSc, PhD</degrees><aff>Girona Institute of Biomedical Research (IDIBGI) and School of Medicine<break/>University of Girona<break/>Girona, Spain</aff><email>oscar@brugada.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sarquella-Brugada</surname><given-names>Georgia</given-names></name><degrees>MD, PhD</degrees><aff>Hospital Sant Joan de Deu<break/>Barcelona, Spain</aff><email>georgia@brugada.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brugada</surname><given-names>Pedro</given-names></name><degrees>MD, PhD</degrees><aff>Free University of Brussels<break/>Brussels, Belgium</aff><email>pedro@brugada.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brugada</surname><given-names>Josep</given-names></name><degrees>MD, PhD</degrees><aff>Cardiovascular Institute<break/>Hospital Clinic and University of Barcelona<break/>Barcelona, Spain</aff><email>josep@brugada.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hong</surname><given-names>Kui</given-names></name><degrees>MD, PhD</degrees><aff>Heart Institute of Nanchang University<break/>Jiangxi, China</aff><email>hongkui88@163.com</email></contrib></contrib-group><?date-created 20050331?><?date-updated 20220825?><?date-revised 20120816?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_brugada.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brugada.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brugada\" document-type=\"chapter\" object-id=\"brugada.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_brylib\"><title>Bryant-Li-Bhoj Neurodevelopmental Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bryant</surname><given-names>Laura</given-names></name><degrees>PhD</degrees><email>laura.bryant@nationwidechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhoj</surname><given-names>Elizabeth</given-names></name><degrees>MD, PhD</degrees><email>bhoje@chop.edu</email></contrib></contrib-group><?date-created 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_brylib.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_brylib.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"brylib\" document-type=\"chapter\" object-id=\"brylib.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg17\"><title><italic toggle=\"yes\">BSCL2</italic>-Related Neurologic Disorders&#x000a0;/ Seipinopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ito</surname><given-names>Daisuke</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>School of Medicine<break/>Keio University<break/>Tokyo, Japan</aff><email>d-ito@jk9.so-net.ne.jp</email></contrib></contrib-group><?date-created 20051206?><?date-updated 20180524?><?date-revised 20120607?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg17.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg17.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg17\" document-type=\"chapter\" object-id=\"spg17.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-C?><toc-entry id=\"toc_mpgn\"><title>C3 Glomerulopathy</title><subtitle content-type=\"alt-title\">Synonyms: C3G, Glomerulonephritis with Dominant C3</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mart&#x000ed;n</surname><given-names>Bertha</given-names></name><degrees>PhD</degrees><aff>Molecular Otolaryngology and Renal Research Laboratories\nAnatomy and Cell Biology Department\nUniversity of Iowa\nIowa City, Iowa</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><aff>Professor of Internal Medicine, Division of Nephrology\nSterba Hearing Research Professor of Otolaryngology\nDirector, Molecular Otolaryngology and Renal Research Laboratories\nUniversity of Iowa\nIowa City, Iowa</aff></contrib></contrib-group><?date-created 20070720?><?date-updated 20180405?><?date-revised 20080102?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mpgn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpgn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpgn\" document-type=\"chapter\" object-id=\"mpgn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_als-ftd\"><title><italic toggle=\"yes\">C9orf72</italic> Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">C9orf72</italic>-FTD/ALS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gossye</surname><given-names>Helena</given-names></name><degrees>MD</degrees><email>helena.gossye@uantwerpen.vib.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Engelborghs</surname><given-names>Sebastiaan</given-names></name><degrees>MD, PhD</degrees><email>sebastiaan.engelborghs@uzbrussel.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Broeckhoven</surname><given-names>Christine</given-names></name><degrees>PhD, DSc</degrees><email>christine.vanbroeckhoven@uantwerpen.vib.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Zee</surname><given-names>Julie</given-names></name><degrees>PhD</degrees><email>julie.vanderzee@uantwerpen.vib.be</email></contrib></contrib-group><?date-created 20150108?><?date-updated 20201217?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_als-ftd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_als-ftd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"als-ftd\" document-type=\"chapter\" object-id=\"als-ftd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_timothy\"><title><italic toggle=\"yes\">CACNA1C</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Napolitano</surname><given-names>Carlo</given-names></name><degrees>MD, PhD</degrees><email>carlo.napolitano@unipv.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Priori</surname><given-names>Silvia G</given-names></name><degrees>MD, PhD</degrees><email>silvia.priori@icsmaugeri.it</email></contrib></contrib-group><?date-created 20060215?><?date-updated 20241219?><?date-revised 20250918?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_timothy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_timothy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"timothy\" document-type=\"chapter\" object-id=\"timothy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cadasil\"><title>CADASIL</title><subtitle content-type=\"alt-title\">Synonym: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hack</surname><given-names>Remco J</given-names></name><degrees>MD</degrees><email>r.j.hack@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rutten</surname><given-names>Julie</given-names></name><degrees>MD, PhD</degrees><email>j.w.rutten@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lesnik Oberstein</surname><given-names>Saskia AJ</given-names></name><degrees>MD, PhD</degrees><email>lesnik@lumc.nl</email></contrib></contrib-group><?date-created 20000315?><?date-updated 20190314?><?date-revised 20160714?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cadasil.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cadasil.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cadasil\" document-type=\"chapter\" object-id=\"cadasil.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_caffey\"><title>Caffey Disease</title><subtitle content-type=\"alt-title\">Synonym: Infantile Cortical Hyperostosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Guerin</surname><given-names>Andrea</given-names></name><degrees>MD, MEd, FRCPC, FCCMG</degrees><email>andrea.guerin@kingstonhsc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dupuis</surname><given-names>Lucie</given-names></name><degrees>MS, MSc, CGC</degrees><email>lucie.dupuis@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mendoza-Londono</surname><given-names>Roberto</given-names></name><degrees>MD, MS, FACMG, FCCMG</degrees><email>roberto.mendoza@sickkids.ca</email></contrib></contrib-group><?date-created 20120802?><?date-updated 20240523?><?date-revised 20121129?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_caffey.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_caffey.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"caffey\" document-type=\"chapter\" object-id=\"caffey.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lgmd2a\"><title>Calpainopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Angelini</surname><given-names>Corrado</given-names></name><degrees>MD</degrees><email>corrado.angelini@unipd.it</email></contrib></contrib-group><?date-created 20050510?><?date-updated 20221201?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lgmd2a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd2a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd2a\" document-type=\"chapter\" object-id=\"lgmd2a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_campo-dysp\"><title>Campomelic Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Camptomelic Dysplasia, <italic toggle=\"yes\">SOX9</italic>-Related Campomelic Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Medical Genetics Service<break/>Centre Hospitalier Universitaire Vaudois<break/>Lausanne, Switzerland</aff><email>sheila.unger@chuv.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scherer</surname><given-names>Gerd</given-names></name><degrees>PhD</degrees><aff>Institute of Human Genetics<break/>University of Freiburg<break/>Freiburg, Germany</aff><email>gerd.scherer@uniklinik-freiburg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Leenaards Professor of Pediatrics<break/>University of Lausanne;<break/>Centre Hospitalier Universitaire Vaudois<break/>Lausanne, Switzerland</aff></contrib></contrib-group><?date-created 20080731?><?date-updated 20210318?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_campo-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_campo-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"campo-dysp\" document-type=\"chapter\" object-id=\"campo-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ced\"><title>Camurati-Engelmann Disease</title><subtitle content-type=\"alt-title\">Synonym: Progressive Diaphyseal Dysplasia, <italic toggle=\"yes\">TGFB1</italic>-Related Diaphyseal Dysplasia Camurati-Engelmann</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wallace</surname><given-names>Stephanie E</given-names></name><degrees>MD</degrees><aff>Division of Genetic Medicine<break/>University of Washington<break/>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>stephanie.wallace@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wilcox</surname><given-names>William R</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>Emory University School of Medicine<break/>Atlanta, Georgia</aff><email>william.wilcox@emory.edu</email></contrib></contrib-group><?date-created 20040625?><?date-updated 20230831?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ced.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ced.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ced\" document-type=\"chapter\" object-id=\"ced.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_canavan\"><title>Canavan Disease</title><subtitle content-type=\"alt-title\">Synonyms: ASPA Deficiency, Aspartoacylase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagy</surname><given-names>Amanda</given-names></name><degrees>MD</degrees><email>anagy2@mgb.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bley</surname><given-names>Annette E</given-names></name><degrees>MD</degrees><email>abley@uke.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eichler</surname><given-names>Florian</given-names></name><degrees>MD</degrees><email>feichler@mgb.org</email></contrib></contrib-group><?date-created 19990916?><?date-updated 20231221?><?date-revised 20260623?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_canavan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_canavan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"canavan\" document-type=\"chapter\" object-id=\"canavan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cantu\"><title>Cant&#x000fa; Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grange</surname><given-names>Dorothy K</given-names></name><degrees>MD</degrees><aff>Division of Genetics and Genomic Medicine<break/>Department of Pediatrics<break/>Washington University School of Medicine;<break/>St Louis Children's Hospital<break/>St Louis, Missouri</aff><email>grangedk@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nichols</surname><given-names>Colin G</given-names></name><degrees>PhD</degrees><aff>Director, Center for the Investigation of Membrane Excitability Diseases<break/>Department of Cell Biology and Physiology<break/>Washington University School of Medicine<break/>St Louis, Missouri</aff><email>cnichols@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Singh</surname><given-names>Gautam K</given-names></name><degrees>MD</degrees><aff>Chief of Pediatric Cardiology<break/>Department of Pediatrics<break/>Central Michigan University School of Medicine;<break/>Children's Hospital of Michigan<break/>Detroit, Michigan</aff><email>gsingh3@dmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Guilliams</surname><given-names>Kristin</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Washington University School of Medicine;<break/>St Louis Children's Hospital<break/>St Louis, Missouri</aff><email>kristinguilliams@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aggarwal</surname><given-names>Manish</given-names></name><degrees>MD</degrees><aff>Division of Cardiology<break/>Department of Pediatrics<break/>Washington University School of Medicine;<break/>St Louis Children's Hospital<break/>St Louis, Missouri</aff><email>maggarwal@wustl.edu</email></contrib></contrib-group><?date-created 20141002?><?date-updated 20260129?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cantu.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cantu.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cantu\" document-type=\"chapter\" object-id=\"cantu.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rasa1-rel-dis\"><title>Capillary Malformation-Arteriovenous Malformation Syndrome</title><subtitle content-type=\"alt-title\">Synonym: CM-AVM Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bayrak-Toydemir</surname><given-names>Pinar</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Department of Pathology<break/>University of Utah<break/>ARUP Laboratories<break/>Salt Lake City, Utah</aff><email>pinar.bayrak-toydemir@aruplab.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevenson</surname><given-names>David A</given-names></name><degrees>MD, FACMG</degrees><aff>Division of Medical Genetics<break/>Stanford University<break/>Palo Alto, California</aff><email>dasteven@stanford.edu</email></contrib></contrib-group><?date-created 20110222?><?date-updated 20190912?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rasa1-rel-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rasa1-rel-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rasa1-rel-dis\" document-type=\"chapter\" object-id=\"rasa1-rel-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ca5a-def\"><title>Carbonic Anhydrase VA Deficiency</title><subtitle content-type=\"alt-title\">Synonym: CA-VA Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Karnebeek</surname><given-names>Clara</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics\nEmma Children&#x02019;s Hospital\nAmsterdam University Medical Center\nAmsterdam, the Netherlands</aff><email>c.d.vankarnebeek@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>H&#x000e4;berle</surname><given-names>Johannes</given-names></name><degrees>MD</degrees><aff>Division of Metabolism\nDepartment of Pediatrics\nUniversity Children's Hospital Zurich\nZurich, Switzerland</aff><email>johannes.haeberle@kispi.uzh.ch</email></contrib></contrib-group><?date-created 20150402?><?date-updated 20210826?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ca5a-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ca5a-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ca5a-def\" document-type=\"chapter\" object-id=\"ca5a-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cfc\"><title>Cardiofaciocutaneous Syndrome</title><subtitle content-type=\"alt-title\">Synonym: CFC Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rauen</surname><given-names>Katherine A</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Department of Pediatrics<break/>Division of Genomic Medicine<break/>University of California, Davis<break/>UC Davis MIND Institute<break/>Sacramento, California</aff><email>rauen@ucdavis.edu</email></contrib></contrib-group><?date-created 20070118?><?date-updated 20230209?><?date-revised 20260521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cfc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfc\" document-type=\"chapter\" object-id=\"cfc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_carney\"><title>Carney Complex</title><subtitle content-type=\"alt-title\">Synonym: Carney Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stratakis</surname><given-names>Constantine A</given-names></name><degrees>MD, DSc</degrees><aff>Director, Human Genetics &#x00026; Precision Medicine<break/>Foundation for Research &#x00026; Technology Hellas<break/>Heraklion, Greece</aff><email>castratakis@verizon.net</email></contrib></contrib-group><?date-created 20030205?><?date-updated 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_carney.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carney.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carney\" document-type=\"chapter\" object-id=\"carney.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cact-def\"><title>Carnitine-Acylcarnitine Translocase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: CACT Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morales Corado</surname><given-names>J Andres</given-names></name><degrees>MBBS</degrees><aff>Assistant Professor, Division of Clinical Genetics<break/>Department of Pediatrics<break/>Columbia University<break/>New York, New York</aff><email>jm5577@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Chung U</given-names></name><degrees>MD</degrees><aff>Assistant Professor, Division of Medical Genetics<break/>Department of Pediatrics<break/>Stanford University<break/>Stanford, California</aff><email>chunglee@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Enns</surname><given-names>Gregory M</given-names></name><degrees>MB ChB</degrees><aff>Professor of Pediatrics, Division of Medical Genetics<break/>Department of Pediatrics<break/>Stanford University<break/>Stanford, California</aff><email>genns@stanford.edu</email></contrib></contrib-group><?date-created 20220721?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cact-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cact-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cact-def\" document-type=\"chapter\" object-id=\"cact-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cpt1a\"><title>Carnitine Palmitoyltransferase 1A Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: CPT1A Deficiency, Hepatic Carnitine Palmitoyltransferase 1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Kristen</given-names></name><degrees>MD</degrees><email>lekriste@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pritchard</surname><given-names>Amanda</given-names></name><degrees>MD</degrees><email>abarone@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahmad</surname><given-names>Ayesha</given-names></name><degrees>MD</degrees><email>ayeshaah@med.umich.edu</email></contrib></contrib-group><?date-created 20050727?><?date-updated 20250220?><?date-revised 20090324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cpt1a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt1a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt1a\" document-type=\"chapter\" object-id=\"cpt1a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cpt2\"><title>Carnitine Palmitoyltransferase II Deficiency</title><subtitle content-type=\"alt-title\">Synonym: CPT II Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>LoPiccolo</surname><given-names>Mary Kate</given-names></name><degrees>MD</degrees><aff>Assistant Professor, Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>mary.lopiccolo@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vockley</surname><given-names>Jerry</given-names></name><degrees>MD, PhD</degrees><aff>Professor, University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>vockleyg@upmc.edu</email></contrib></contrib-group><?date-created 20040827?><?date-updated 20260409?><?date-revised 20190103?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cpt2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cpt2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cpt2\" document-type=\"chapter\" object-id=\"cpt2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chh\"><title>Cartilage-Hair Hypoplasia &#x02013; Anauxetic Dysplasia Spectrum Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>M&#x000e4;kitie</surname><given-names>Outi</given-names></name><degrees>MD, PhD</degrees><email>outi.makitie@helsinki.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vakkilainen</surname><given-names>Svetlana</given-names></name><degrees>MD, PhD</degrees><email>svetlana.vakkilainen@helsinki.fi</email></contrib></contrib-group><?date-created 20120315?><?date-updated 20230511?><?date-revised 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chh\" document-type=\"chapter\" object-id=\"chh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cask-dis\"><title><italic toggle=\"yes\">CASK</italic> Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moog</surname><given-names>Ute</given-names></name><degrees>MD</degrees><aff>Institute of Human Genetics<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>ute.moog@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kutsche</surname><given-names>Kerstin</given-names></name><degrees>PhD</degrees><aff>Institute of Human Genetics<break/>University Medical Center Hamburg-Eppendorf<break/>Hamburg, Germany</aff><email>kkutsche@uke.de</email></contrib></contrib-group><?date-created 20131126?><?date-updated 20200521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cask-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cask-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cask-dis\" document-type=\"chapter\" object-id=\"cask-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cvt\"><title>Catecholaminergic Polymorphic Ventricular Tachycardia</title><subtitle content-type=\"alt-title\">Synonyms: Catecholamine-Induced Polymorphic Ventricular Tachycardia, CPVT</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Napolitano</surname><given-names>Carlo</given-names></name><degrees>MD, PhD</degrees><aff>Associate Professor, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italy</aff><email>carlo.napolitano@unipv.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mazzanti</surname><given-names>Andrea</given-names></name><degrees>MD, PhD</degrees><aff>Assistant Professor, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italy</aff><email>andrea.mazzanti@icsmaugeri.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bloise</surname><given-names>Raffaella</given-names></name><degrees>MD</degrees><aff>Medical Geneticist, Molecular Cardiology\nICS Maugeri\nPavia, Italy</aff><email>raffaella.bloise@icsmaugeri.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Priori</surname><given-names>Silvia G</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Cardiology, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italy</aff><email>silvia.priori@icsmaugeri.it</email></contrib></contrib-group><?date-created 20041014?><?date-updated 20220623?><?date-revised 20130207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cvt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cvt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cvt\" document-type=\"chapter\" object-id=\"cvt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xlhi\"><title>CD40 Ligand Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: CD154 Deficiency, HIGM1, X-Linked Hyper-IgM Immunodeficiency (XHIGM), X-Linked Hyper IgM Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dunn</surname><given-names>Clinton P</given-names></name><degrees>MD</degrees><aff>Children's Specialty Group<break/>Children's Hospital of the King's Daughters<break/>Virginia Health Sciences at Old Dominion University<break/>Norfolk, Virginia</aff><email>clinton.dunn@chkd.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de la Morena</surname><given-names>M Teresa</given-names></name><degrees>MD</degrees><aff>University of Washington<break/>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>mariateresa.delamorena@seattlechildrens.org</email></contrib></contrib-group><?date-created 20070531?><?date-updated 20251204?><?date-revised 20130124?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xlhi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xlhi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xlhi\" document-type=\"chapter\" object-id=\"xlhi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hrpt2\"><title><italic toggle=\"yes\">CDC73</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Skefos</surname><given-names>Catherine M</given-names></name><degrees>MA, MS</degrees><aff>Certified Genetic Counselor, Clinical Cancer Genetics Program<break/>The University of Texas MD Anderson Cancer Center<break/>Houston, Texas</aff><email>cbskefos@mdanderson.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waguespack</surname><given-names>Steven G</given-names></name><degrees>MD</degrees><aff>Professor, Department of Endocrine Neoplasia and Hormonal Disorders &#x00026; Department of Pediatrics<break/>The University of Texas MD Anderson Cancer Center<break/>Houston, Texas</aff><email>swagues@mdanderson.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Perrier</surname><given-names>Nancy D</given-names></name><degrees>MD, FACS</degrees><aff>Professor, Department of Surgical Oncology<break/>The University of Texas MD Anderson Cancer Center<break/>Houston, Texas</aff><email>nperrier@mdanderson.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hu</surname><given-names>Mimi I</given-names></name><degrees>MD</degrees><aff>Professor, Department of Endocrine Neoplasia and Hormonal Disorders<break/>The University of Texas MD Anderson Cancer Center<break/>Houston, Texas</aff><email>mhu@mdanderson.org</email></contrib></contrib-group><?date-created 20081231?><?date-updated 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hrpt2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hrpt2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hrpt2\" document-type=\"chapter\" object-id=\"hrpt2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdk13-dis\"><title><italic toggle=\"yes\">CDK13</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">CDK13</italic>-Related Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; <italic toggle=\"yes\">CDK13</italic>-Related CHDFIDD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bostwick</surname><given-names>Bret</given-names></name><degrees>MD</degrees><aff>Baylor College of Medicine<break/>Texas Children's Hospital<break/>Houston, Texas</aff><email>bostwick@bcm.edu</email></contrib></contrib-group><?date-created 20190131?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdk13-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdk13-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdk13-dis\" document-type=\"chapter\" object-id=\"cdk13-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdkl5-def\"><title>CDKL5 Deficiency Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (CDD), <italic toggle=\"yes\">CDKL5</italic>-Related Developmental and Epileptic Encephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Benke</surname><given-names>Tim A</given-names></name><degrees>MD, PhD</degrees><email>tim.benke@cuanschutz.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Demarest</surname><given-names>Scott</given-names></name><degrees>MD</degrees><email>scott.demarest@cuanschutz.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Angione</surname><given-names>Katie</given-names></name><degrees>MS</degrees><email>kaitlin.angione@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Downs</surname><given-names>Jenny</given-names></name><degrees>BAppSci, GradCertPubHlth, MSc, PhD</degrees><email>jenny.downs@telethonkids.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leonard</surname><given-names>Helen</given-names></name><degrees>MBChB, MPH</degrees><email>helen.leonard@telethonkids.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saldaris</surname><given-names>Jacinta</given-names></name><degrees>PhD</degrees><email>jacinta.saldaris@telethonkids.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marsh</surname><given-names>Eric D</given-names></name><degrees>MD, PhD</degrees><email>marshe@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Olson</surname><given-names>Heather</given-names></name><degrees>MD, MS</degrees><email>heather.olson@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haviland</surname><given-names>Isabel</given-names></name><degrees>MD</degrees><email>isabel.haviland@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20240411?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdkl5-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkl5-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkl5-def\" document-type=\"chapter\" object-id=\"cdkl5-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdkn2a-cpd\"><title><italic toggle=\"yes\">CDKN2A</italic> Cancer Predisposition</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">CDKN2A</italic>-Related Melanoma-Astrocytoma Syndrome (MAS), Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), Melanoma-Pancreatic Cancer Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jacobs</surname><given-names>Michelle F</given-names></name><degrees>MS, CGC</degrees><email>mfjac@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Murad</surname><given-names>Andrea M</given-names></name><degrees>MS, CGC</degrees><email>amurad@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cho</surname><given-names>Nicole D</given-names></name><degrees>MS, CGC</degrees><email>nicdcho@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cha</surname><given-names>Kelly B</given-names></name><degrees>MD, PhD</degrees><email>kellycha@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stoffel</surname><given-names>Elena M</given-names></name><degrees>MD, MPH</degrees><email>estoffel@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Else</surname><given-names>Tobias</given-names></name><degrees>MD</degrees><email>telse@med.umich.edu</email></contrib></contrib-group><?date-created 20250717?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdkn2a-cpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdkn2a-cpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdkn2a-cpd\" document-type=\"chapter\" object-id=\"cdkn2a-cpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cebpa-aml\"><title><italic toggle=\"yes\">CEBPA-</italic>Associated Familial Acute Myeloid Leukemia (AML)</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">CEBPA</italic>-Dependent Familial Acute Myeloid Leukemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tawana</surname><given-names>Kiran</given-names></name><degrees>MBChB, FRCPath, PhD</degrees><email>kiran.tawana@addenbrookes.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fitzgibbon</surname><given-names>Jude</given-names></name><degrees>BA, PhD</degrees><email>j.fitzgibbon@qmul.ac.uk</email></contrib></contrib-group><?date-created 20101021?><?date-updated 20210218?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cebpa-aml.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cebpa-aml.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cebpa-aml\" document-type=\"chapter\" object-id=\"cebpa-aml.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_celiac\"><title>Celiac Disease</title><subtitle content-type=\"alt-title\">Synonyms: Celiac Sprue, C&#x00153;liac Disease, Gluten-Sensitive Enteropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Annette K</given-names></name><degrees>PhD, MS, FACMG</degrees><aff>Associate VP, Strategic Director, Pharmacogenomics;<break/>Scientific Director, Molecular Genetics<break/>Labcorp<break/>Englewood, Colorado</aff><email>tayla12@labcorp.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lebwohl</surname><given-names>Benjamin</given-names></name><degrees>MD, MS</degrees><aff>Professor of Medicine and Epidemiology<break/>Celiac Disease Center<break/>Columbia University<break/>New York, New York</aff><email>bl114@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Snyder</surname><given-names>Cara L</given-names></name><degrees>MS, CGC</degrees><aff>CLS Genetic Consulting, LLC</aff><email>cara@carasnyder.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Green</surname><given-names>Peter HR</given-names></name><degrees>MD</degrees><aff>Director, Celiac Disease Center<break/>Phyllis and Ivan Seidenberg Professor of Medicine<break/>Columbia University Medical Center<break/>New York, New York</aff><email>pg11@columbia.edu</email></contrib></contrib-group><?date-created 20080703?><?date-updated 20251204?><?date-revised 20120614?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_celiac.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_celiac.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"celiac\" document-type=\"chapter\" object-id=\"celiac.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ctx\"><title>Cerebrotendinous Xanthomatosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Federico</surname><given-names>Antonio</given-names></name><degrees>MD</degrees><email>federico@unisi.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gallus</surname><given-names>Gian Nicola</given-names></name><degrees>DSci</degrees><email>gallus2@unisi.it</email></contrib></contrib-group><?date-created 20030716?><?date-updated 20220317?><?date-revised 20241114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ctx.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctx.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctx\" document-type=\"chapter\" object-id=\"ctx.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cetp-def\"><title><italic toggle=\"yes\">CETP</italic>-Related Hyperalphalipoproteinemia</title><subtitle content-type=\"alt-title\">Synonyms: Cholesteryl Ester Transfer Protein (CETP) Deficiency, Primary Hyperalphalipoproteinemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><aff>Department of Clinical Biochemistry<break/>Royal Perth Hospital &#x00026; Fiona Stanley Hospital Network<break/>PathWest Laboratory Medicine WA;<break/>Faculty of Health &#x00026; Medical Sciences<break/>School of Medicine<break/>University of Western Australia<break/>Perth, Australia</aff><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><aff>Department of Clinical Biochemistry<break/>Royal Perth Hospital &#x00026; Fiona Stanley Hospital Network<break/>PathWest Laboratory Medicine WA;<break/>School of Medicine<break/>University of Western Australia<break/>Perth, Australia</aff><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><aff>Departments of Medicine and Biochemistry<break/>Schulich School of Medicine and Robarts Research Institute<break/>Western University<break/>London, Ontario, Canada</aff><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20250508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cetp-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cetp-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cetp-def\" document-type=\"chapter\" object-id=\"cetp-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmt\"><title>Charcot-Marie-Tooth Hereditary Neuropathy Overview</title><subtitle content-type=\"alt-title\">Synonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bird</surname><given-names>Thomas D</given-names></name><degrees>MD</degrees><aff>Seattle VA Medical Center;<break/>Departments of Neurology and Medicine<break/>University of Washington<break/>Seattle, Washington</aff><email>tomnroz@u.washington.edu</email></contrib></contrib-group><?date-created 19980928?><?date-updated 20180628?><?date-revised 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Clinical_Characteristics_of_CharcotM\"><title> Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Clinical_Characteristics_of_CharcotM\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Causes_of_CharcotMarieTooth_CMT_Here\"><title> Causes of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Causes_of_CharcotMarieTooth_CMT_Here\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Management_of_CharcotMarieTooth_CMT\"><title> Management of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Management_of_CharcotMarieTooth_CMT\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Genetic_Counseling_of_Family_Members\"><title> Genetic Counseling of Family Members of an Individual with Charcot-Marie-Tooth (CMT) Hereditary Neuropathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Genetic_Counseling_of_Family_Members\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt\" document-type=\"chapter\" object-id=\"cmt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_char\"><title>Char Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gelb</surname><given-names>Bruce D</given-names></name><degrees>MD</degrees><aff>Pediatrics and Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New York</aff><email>bruce.gelb@mssm.edu</email></contrib></contrib-group><?date-created 20030815?><?date-updated 20200521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_char.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_char.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"char\" document-type=\"chapter\" object-id=\"char.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chchd10-dis\"><title><italic toggle=\"yes\">CHCHD10</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ait-El-Mkadem Saadi</surname><given-names>Samira</given-names></name><degrees>PhD</degrees><email>saadi.s@chu-nice.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chaussenot</surname><given-names>Annabelle</given-names></name><degrees>MD</degrees><email>chaussenot.a@chu-nice.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bannwarth</surname><given-names>Sylvie</given-names></name><degrees>PhD</degrees><email>bannwarth.s@chu-nice.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rouzier</surname><given-names>C&#x000e9;cile</given-names></name><degrees>MD, PhD</degrees><email>rouzier.c@chu-nice.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paquis-Flucklinger</surname><given-names>V&#x000e9;ronique</given-names></name><degrees>MD, PhD</degrees><email>paquis@unice.fr</email></contrib></contrib-group><?date-created 20150701?><?date-updated 20210527?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chchd10-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chchd10-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chchd10-dis\" document-type=\"chapter\" object-id=\"chchd10-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chd2-dis\"><title><italic toggle=\"yes\">CHD2</italic>-Related Neurodevelopmental Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carvill</surname><given-names>Gemma L</given-names></name><degrees>PhD</degrees><aff>Department of Neurology<break/>Northwestern University<break/>Evanston, Illinois</aff><email>gemma.carvill@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mefford</surname><given-names>Heather C</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Center for Pediatric Neurological Disease Research<break/>Department of Cellular and Molecular Biology<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>heather.mefford@stjude.org</email></contrib></contrib-group><?date-created 20151210?><?date-updated 20210121?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chd2-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd2-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd2-dis\" document-type=\"chapter\" object-id=\"chd2-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chd4-ndd\"><title><italic toggle=\"yes\">CHD4</italic> Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Sifrim-Hitz-Weiss Syndrome, SIHIWES</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weiss</surname><given-names>Karin</given-names></name><degrees>MD</degrees><aff>Genetics Institute\nRambam Health Care Center;\nRuth and Bruce Rappaport Faculty of Medicine\nTechnion-Israel Institute of Technology\nHaifa, Israel</aff><email>k_weiss@rmc.gov.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lachlan</surname><given-names>Katherine</given-names></name><degrees>MD</degrees><aff>Wessex Clinical Genetics Service\nUniversity Hospital Southampton NHS Trust;\nDepartment of Human Genetics and Genomic Medicine\nSouthampton University\nSouthampton, United Kingdom</aff><email>katherine.lachlan@uhs.nhs.uk</email></contrib></contrib-group><?date-created 20200903?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chd4-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd4-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd4-ndd\" document-type=\"chapter\" object-id=\"chd4-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_charge\"><title><italic toggle=\"yes\">CHD7</italic> Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Ravenswaaij-Arts</surname><given-names>Conny M</given-names></name><degrees>MD, PhD</degrees><aff>University Medical Center Groningen<break/>Groningen, the Netherlands</aff><email>c.m.a.van.ravenswaaij@umcg.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hefner</surname><given-names>Meg</given-names></name><degrees>MS</degrees><aff>Saint Louis University<break/>St Louis, Missouri</aff><email>meg.hefner@health.slu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Blake</surname><given-names>Kim</given-names></name><degrees>MD, MRCP, FRCPC</degrees><aff>Dalhousie University<break/>Halifax, Nova Scotia, Canada</aff><email>kblake@dal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Martin</surname><given-names>Donna M</given-names></name><degrees>MD, PhD</degrees><aff>University of Michigan<break/>Ann Arbor, Michigan</aff><email>donnamm@umich.edu</email></contrib></contrib-group><?date-created 20061002?><?date-updated 20200917?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_charge.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_charge.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"charge\" document-type=\"chapter\" object-id=\"charge.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chd8-ndd-og\"><title><italic toggle=\"yes\">CHD8</italic>-Related Neurodevelopmental Disorder with Overgrowth</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mitchel</surname><given-names>Marissa W</given-names></name><degrees>MS, CCC-SLP</degrees><email>mwmitchel@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myers</surname><given-names>Scott M</given-names></name><degrees>MD</degrees><email>smyers1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Heidlebaugh</surname><given-names>Alexis R</given-names></name><degrees>ScM, CGC</degrees><email>arheidlebaugh@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Cora M</given-names></name><degrees>PhD</degrees><email>cmtaylor1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rea</surname><given-names>Hannah</given-names></name><degrees>PhD</degrees><email>hrea@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Neuhaus</surname><given-names>Emily</given-names></name><degrees>PhD</degrees><email>eneuhaus@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurtz-Nelson</surname><given-names>Evangeline C</given-names></name><degrees>PhD</degrees><email>evakn@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Earl</surname><given-names>Rachel</given-names></name><degrees>PhD</degrees><email>rearl@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bernier</surname><given-names>Raphael</given-names></name><degrees>PhD</degrees><email>rab2@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ledbetter</surname><given-names>David H</given-names></name><degrees>PhD, FACMG</degrees><email>ledbetter.david@ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Martin</surname><given-names>Christa L</given-names></name><degrees>PhD, FACMG</degrees><email>clmartin1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eichler</surname><given-names>Evan E</given-names></name><degrees>PhD</degrees><email>eee@gs.washington.edu</email></contrib></contrib-group><?date-created 20221027?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chd8-ndd-og.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chd8-ndd-og.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chd8-ndd-og\" document-type=\"chapter\" object-id=\"chd8-ndd-og.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chediak-higashi\"><title>Chediak-Higashi Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toro</surname><given-names>Camilo</given-names></name><degrees>MD</degrees><email>toroc@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morimoto</surname><given-names>Marie</given-names></name><degrees>PhD</degrees><email>marie.morimoto@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Malicdan</surname><given-names>May Christine</given-names></name><degrees>MD, PhD</degrees><email>malicdanm@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adams</surname><given-names>David R</given-names></name><degrees>MD, PhD</degrees><email>david.adams@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Introne</surname><given-names>Wendy J</given-names></name><degrees>MD</degrees><email>wintrone@mail.nih.gov</email></contrib></contrib-group><?date-created 20090303?><?date-updated 20231221?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chediak-higashi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chediak-higashi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chediak-higashi\" document-type=\"chapter\" object-id=\"chediak-higashi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chek2-cpd\"><title><italic toggle=\"yes\">CHEK2</italic>-Related Cancer Predisposition</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hanson</surname><given-names>Helen</given-names></name><degrees>MD</degrees><aff>Peninsula Clinical Genetics<break/>Royal Devon University Healthcare NHS Foundation Trust;<break/>Department of Clinical and Biomedical Sciences<break/>University of Exeter Medical School<break/>Exeter, United Kingdom</aff><email>helen.hanson6@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pal</surname><given-names>Tuya</given-names></name><degrees>MD</degrees><aff>Department of Medicine<break/>Vanderbilt University Medical Center<break/>Vanderbilt-Ingram Cancer Center<break/>Nashville, Tennessee</aff><email>tuya.pal@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tischkowitz</surname><given-names>Marc</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genomic Medicine<break/>National Institute for Health Research<break/>Cambridge Biomedical Research Centre<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>mdt33@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stewart</surname><given-names>Douglas</given-names></name><degrees>MD</degrees><aff>Clinical Genetics Branch<break/>Division of Cancer Epidemiology and Genetics<break/>National Cancer Institute<break/>Rockville, Maryland</aff><email>drstewart@mail.nih.gov</email></contrib></contrib-group><?date-created 20250529?><?date-revised 20260325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chek2-cpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chek2-cpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chek2-cpd\" document-type=\"chapter\" object-id=\"chek2-cpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cherubism\"><title>Cherubism</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morice</surname><given-names>Anne</given-names></name><degrees>MD, PhD</degrees><email>a.morice@chu-tours.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kadlub</surname><given-names>Natacha</given-names></name><degrees>MD, PhD</degrees><email>natacha.kadlub@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coudert</surname><given-names>Am&#x000e9;lie</given-names></name><degrees>PhD</degrees><email>amelie.coudert@inserm.fr</email></contrib></contrib-group><?date-created 20070226?><?date-updated 20250320?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cherubism.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cherubism.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cherubism\" document-type=\"chapter\" object-id=\"cherubism.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cach\"><title>Childhood Ataxia with Central Nervous System Hypomyelination&#x000a0;/ Vanishing White Matter</title><subtitle content-type=\"alt-title\">Synonyms: CACH/VWM, Leukoencephalopathy with Vanishing White Matter</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees><email>ms.vanderknaap@vumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fogli</surname><given-names>Anne</given-names></name><degrees>PhD</degrees><email>anne.fogli@inserm.u-clermont1.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boespflug-Tanguy</surname><given-names>Odile</given-names></name><degrees>MD, PhD</degrees><email>odile.boespflug-tanguy@rdb.aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abbink</surname><given-names>Truus EM</given-names></name><degrees>PhD</degrees><email>g.abbink@vumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schiffmann</surname><given-names>Raphael</given-names></name><degrees>MD</degrees><email>raphael.schiffmann@baylorhealth.edu</email></contrib></contrib-group><?date-created 20030220?><?date-updated 20190404?><?date-revised 20120809?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cach.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cach.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cach\" document-type=\"chapter\" object-id=\"cach.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chkb-md\"><title><italic toggle=\"yes\">CHKB</italic>-Related Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonym: Megaconial Congenital Muscular Dystrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chan</surname><given-names>Sophelia HS</given-names></name><degrees>MD</degrees><aff>Division of Neurology<break/>Department of Paediatrics and Adolescent Medicine<break/>School of Clinical Medicine<break/>LKS Faculty of Medicine<break/>University of Hong Kong<break/>Hong Kong SAR, China</aff><email>sophehs@hku.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nishino</surname><given-names>Ichizo</given-names></name><degrees>MD, PhD</degrees><aff>National Institute of Neuroscience<break/>National Center of Neurology and Psychiatry<break/>Tokyo, Japan</aff><email>nishino@ncnp.go.jp</email></contrib></contrib-group><?date-created 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chkb-md.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.GeneReview_Scope\"><title>GeneReview Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chkb-md.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chkb-md\" document-type=\"chapter\" object-id=\"chkb-md.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ftd-chmp2b\"><title><italic toggle=\"yes\">CHMP2B-</italic>Related Frontotemporal Dementia-Amyotrophic Lateral Sclerosis</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">CHMP2B</italic>-FTD-ALS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roos</surname><given-names>Peter</given-names></name><degrees>MD, PhD</degrees><email>peter.roos@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Holm</surname><given-names>Ida E</given-names></name><degrees>MD, DMSc</degrees><email>idaholm@dadlnet.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nielsen</surname><given-names>J&#x000f8;rgen E</given-names></name><degrees>MD, PhD</degrees><email>joergen.erik.nielsen.01@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ejlerskov</surname><given-names>Patrick</given-names></name><degrees>MSc, PhD</degrees><email>patrick.ejlerskov@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toft</surname><given-names>Anders</given-names></name><degrees>MD, PhD</degrees><email>anders.toft.01@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Isaacs</surname><given-names>Adrian M</given-names></name><degrees>DPhil</degrees><email>a.isaacs@ucl.ac.uk</email></contrib></contrib-group><?date-created 20070823?><?date-updated 20260325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ftd-chmp2b.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-chmp2b.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-chmp2b\" document-type=\"chapter\" object-id=\"ftd-chmp2b.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdp1-xlr\"><title>Chondrodysplasia Punctata 1, X-Linked</title><subtitle content-type=\"alt-title\">Synonym: Arylsulfatase E Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Braverman</surname><given-names>Nancy E</given-names></name><degrees>MS, MD</degrees><aff>Departments of Pediatrics and Human Genetics\nMcGill University and Research Institute of the McGill University Health Center\nMontreal, Quebec, Canada</aff><email>nancy.braverman@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bober</surname><given-names>Michael B</given-names></name><degrees>MD, PhD</degrees><aff>Director, Skeletal Dysplasia Program\nAI duPont Hospital for Children\nWilmington, Delaware</aff><email>mbober@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brunetti-Pierri</surname><given-names>Nicola</given-names></name><degrees>MD</degrees><aff>Telethon Institute of Genetics and Medicine;\nDepartment of Translational Medicine\nFederico II University of Naples\nNaples, Italy</aff><email>brunetti@tigem.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Suchy</surname><given-names>Sharon F</given-names></name><degrees>PhD</degrees><aff>Director, Inherited Metabolic Disorders\nGeneDx, Inc\nGaithersburg, Maryland</aff><email>ssuchy@genedx.com</email></contrib></contrib-group><?date-created 20080422?><?date-updated 20201015?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdp1-xlr.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdp1-xlr.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdp1-xlr\" document-type=\"chapter\" object-id=\"cdp1-xlr.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cd-chst3\"><title>Chondrodysplasia with Congenital Joint Dislocations, <italic toggle=\"yes\">CHST3</italic>-Related</title><subtitle content-type=\"alt-title\">Synonyms: CHST3 Deficiency, <italic toggle=\"yes\">CHST3</italic>-Related Skeletal Dysplasia, Recessive Larsen Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Professor, Division of Genetic Medicine<break/>University of Lausanne;<break/>Genetica AG<break/>Lausanne, Switzerland</aff><email>asuperti@unil.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Genetica AG<break/>Lausanne, Switzerland</aff><email>s.unger@genetica.ch</email></contrib></contrib-group><?date-created 20110901?><?date-updated 20240801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cd-chst3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cd-chst3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cd-chst3\" document-type=\"chapter\" object-id=\"cd-chst3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_choroid\"><title>Choroideremia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Ian M</given-names></name><degrees>MD, CM</degrees><email>macdonal@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hume</surname><given-names>Stacey</given-names></name><degrees>PhD</degrees><email>shume@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhai</surname><given-names>Yi</given-names></name><degrees>MD, PhD</degrees><email>yzhai4@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xu</surname><given-names>Manlong</given-names></name><degrees>MD, PhD</degrees><email>manlong@ualberta.ca</email></contrib></contrib-group><?date-created 20030221?><?date-updated 20210304?><?date-revised 20080528?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_choroid.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_choroid.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"choroid\" document-type=\"chapter\" object-id=\"choroid.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_christianson\"><title>Christianson Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morrow</surname><given-names>Eric M</given-names></name><degrees>MD, PhD</degrees><aff>Developmental Disorders Genetics Research Program<break/>Emma Pendleton Bradley Hospital<break/>The Warren Alpert Medical School<break/>Department of Molecular Biology, Cell Biology, and Biochemistry<break/>Hassenfeld Child Health Innovation Institute<break/>Brown University<break/>Providence, Rhode Island</aff><email>emorrow@lifespan.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pescosolido</surname><given-names>Matthew F</given-names></name><degrees>BA</degrees><aff>Developmental Disorders Genetics Research Program<break/>Emma Pendleton Bradley Hospital<break/>The Warren Alpert Medical School<break/>Brown University<break/>Providence, Rhode Island</aff><email>matthew_pescosolido@brown.edu</email></contrib></contrib-group><?date-created 20180111?><?date-revised 20250918?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_christianson.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_christianson.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"christianson\" document-type=\"chapter\" object-id=\"christianson.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cgd\"><title>Chronic Granulomatous Disease</title><subtitle content-type=\"alt-title\">Synonym: CGD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leiding</surname><given-names>Jennifer W</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Division of Allergy and Immunology<break/>Johns Hopkins University<break/>Baltimore, Maryland</aff><email>jleidin1@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Holland</surname><given-names>Steven M</given-names></name><degrees>MD</degrees><aff>Laboratory of Clinical Microbiology and Immunology<break/>National Institute of Allergy and Infectious Diseases<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>sholland@niaid.nih.gov</email></contrib></contrib-group><?date-created 20120809?><?date-updated 20220421?><?date-revised 20260122?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cgd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cgd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cgd\" document-type=\"chapter\" object-id=\"cgd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmr\"><title>Chylomicron Retention Disease</title><subtitle content-type=\"alt-title\">Synonym: Anderson Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20220324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmr.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmr.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmr\" document-type=\"chapter\" object-id=\"cmr.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_citrin\"><title>Citrin Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Song</surname><given-names>Yuan-Zong</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>First Affiliated Hospital<break/>Jinan University<break/>Guangzhou, China</aff><email>songyuanzong@vip.tom.com</email><email>songyuanzong@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oishi</surname><given-names><?break?>Kimihiko</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Jikei University School of Medicine<break/>Tokyo, Japan</aff><email>kimihiko.oishi@jikei.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saheki</surname><given-names>Takeyori</given-names></name><degrees>MD, PhD</degrees><aff>Department of Hygiene and Health Promotion Medicine<break/>Kagoshima University Graduate School of Medical and Dental Sciences<break/>Kagoshima, Japan</aff><email>takesah@gmail.com</email></contrib></contrib-group><?date-created 20050916?><?date-updated 20250320?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_citrin.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_citrin.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"citrin\" document-type=\"chapter\" object-id=\"citrin.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ctlm\"><title>Citrullinemia Type I</title><subtitle content-type=\"alt-title\">Synonyms: Argininosuccinate Synthetase Deficiency, Argininosuccinic Acid Synthetase Deficiency, ASS Deficiency, Classic Citrullinemia, CTLN1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quinonez</surname><given-names>Shane C</given-names></name><degrees>MD</degrees><email>squinon@umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Kristen N</given-names></name><degrees>MD</degrees><email>lekriste@med.umich.edu</email></contrib></contrib-group><?date-created 20040707?><?date-updated 20220818?><?date-revised 20080422?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ctlm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctlm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctlm\" document-type=\"chapter\" object-id=\"ctlm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds\"><title>Classic Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Classical Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome, Classical Type; cEDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Malfait</surname><given-names>Fransiska</given-names></name><degrees>MD, PhD</degrees><email>fransiska.malfait@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Symoens</surname><given-names>Sofie</given-names></name><degrees>PhD</degrees><email>sofie.symoens@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Syx</surname><given-names>Delfien</given-names></name><degrees>PhD</degrees><email>delfien.syx@ugent.be</email></contrib></contrib-group><?date-created 20070529?><?date-updated 20240201?><?date-revised 20100511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds\" document-type=\"chapter\" object-id=\"eds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_galactosemia\"><title>Classic Galactosemia and Clinical Variant Galactosemia</title><subtitle content-type=\"alt-title\">Synonyms: Galactose-1-Phosphate Uridylyltransferase Deficiency, GALT Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berry</surname><given-names>Gerard T</given-names></name><degrees>MD, FFACMG</degrees><aff>Boston Children's HospitalHarvard Medical SchoolBoston, Massachusetts</aff><email>gerard.berry@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20000204?><?date-updated 20210311?><?date-revised 20200702?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_galactosemia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_galactosemia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"galactosemia\" document-type=\"chapter\" object-id=\"galactosemia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_isovaleric-a\"><title>Classic Isovaleric Acidemia</title><subtitle content-type=\"alt-title\">Synonyms: Classic Isovaleric Aciduria, Isovaleryl-Coenzyme A Dehydrogenase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>M&#x000fc;tze</surname><given-names>Ulrike</given-names></name><degrees>MD</degrees><email>ulrike.muetze@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reischl-Hajiabadi</surname><given-names>Anna</given-names></name><degrees>MD</degrees><email>anna.reischl-hajiabadi@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>K&#x000f6;lker</surname><given-names>Stefan</given-names></name><degrees>MD</degrees><email>stefan.koelker@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20240314?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_isovaleric-a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isovaleric-a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isovaleric-a\" document-type=\"chapter\" object-id=\"isovaleric-a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mws\"><title>Classic Mowat-Wilson Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Hirschsprung Disease &#x02013; Intellectual Disability Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adam</surname><given-names>Margaret P</given-names></name><degrees>MD, MS, FAAP, FACMG</degrees><aff>Professor of Pediatrics, Division of Genetic Medicine<break/>Department of Pediatrics<break/>University of Washington<break/>Seattle, Washington</aff><email>margaret.adam@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Conta</surname><given-names>Jessie</given-names></name><degrees>MS, LGC</degrees><aff>Department of Laboratories<break/>Seattle Children&#x02019;s Hospital<break/>Seattle, Washington</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bean</surname><given-names>Lora JH</given-names></name><degrees>PhD, FACMG</degrees><aff>PerkinElmer Genomics, Inc<break/>Pittsburgh, Pennsylvania</aff><email>lora.bean@perkinelmer.com</email></contrib></contrib-group><?date-created 20070328?><?date-updated 20250410?><?date-revised 20260423?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mws.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mws.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mws\" document-type=\"chapter\" object-id=\"mws.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cc2-leuk\"><title><italic toggle=\"yes\">CLCN2</italic>-Related Leukoencephalopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Min</surname><given-names>Rogier</given-names></name><degrees>PhD</degrees><email>r.min@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Depienne</surname><given-names>Christel</given-names></name><degrees>PhD</degrees><email>christel.depienne@uni-due.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sedel</surname><given-names>Frederic</given-names></name><degrees>MD</degrees><email>frederic.sedel@medday-pharma.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abbink</surname><given-names>Truus EM</given-names></name><degrees>PhD</degrees><email>g.abbink@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees><email>ms.vanderknaap@amsterdamumc.nl</email></contrib></contrib-group><?date-created 20151105?><?date-updated 20210520?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cc2-leuk.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cc2-leuk.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cc2-leuk\" document-type=\"chapter\" object-id=\"cc2-leuk.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_clcn4-ndd\"><title><italic toggle=\"yes\">CLCN4</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Palmer</surname><given-names>Elizabeth Emma</given-names></name><degrees>PhD, MBBS, FRACP</degrees><email>elizabeth.palmer@unsw.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nguyen</surname><given-names>Matthew Huu</given-names></name><degrees>BMedSc (Hons 1), MD</degrees><email>huu.nguyen1@health.nsw.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Forwood</surname><given-names>Caitlin</given-names></name><degrees>MBBS (Hons), BSc (Hons), FRACGP, DCH</degrees><email>caitlin.forwood@health.nsw.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalscheuer</surname><given-names>Vera</given-names></name><degrees>PhD</degrees><email>kalscheu@molgen.mpg.de</email></contrib></contrib-group><?date-created 20211216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_clcn4-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn4-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn4-ndd\" document-type=\"chapter\" object-id=\"clcn4-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_clcn7\"><title><italic toggle=\"yes\">CLCN7</italic>-Related Osteopetrosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sobacchi</surname><given-names>Cristina</given-names></name><degrees>MS</degrees><email>cristina.sobacchi@humanitasresearch.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Villa</surname><given-names>Anna</given-names></name><degrees>MD, PhD</degrees><email>anna.villa@humanitasresearch.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schulz</surname><given-names>Ansgar</given-names></name><degrees>MD</degrees><email>ansgar.schulz@uniklinik-ulm.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kornak</surname><given-names>Uwe</given-names></name><degrees>MD, PhD</degrees><email>uwe.kornak@med.uni-goettingen.de</email></contrib></contrib-group><?date-created 20070212?><?date-updated 20220120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_clcn7.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clcn7.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clcn7\" document-type=\"chapter\" object-id=\"clcn7.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ccd\"><title>Cleidocranial Dysplasia Spectrum Disorder</title><subtitle content-type=\"alt-title\">Synonym: Cleidocranial Dysostosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Machol</surname><given-names>Keren</given-names></name><degrees>MD, PhD</degrees><email>machol@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mendoza-Londono</surname><given-names>Roberto</given-names></name><degrees>MD, MS</degrees><email>roberto.mendoza@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Brendan</given-names></name><degrees>MD, PhD</degrees><email>blee@bcm.edu</email></contrib></contrib-group><?date-created 20060103?><?date-updated 20230413?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ccd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccd\" document-type=\"chapter\" object-id=\"ccd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_clpb-def\"><title>CLPB Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Caseinolytic Peptidase B Deficiency, CLPB Defect</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wortmann</surname><given-names>Saskia B</given-names></name><degrees>MD, PhD</degrees><aff>Clinical Lead, Pediatric Metabolic Disorders<break/>Department of Pediatrics<break/>Salzburger Landeskliniken and Paracelsus Medical University<break/>Salzburg, Austria</aff><email>s.wortmann@salk.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wevers</surname><given-names>Ron A</given-names></name><degrees>PhD</degrees><aff>Translational Metabolic Laboratory<break/>Department of Laboratory Medicine<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>ron.wevers@radboudumc.nl</email></contrib></contrib-group><?date-created 20161122?><?date-updated 20220310?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_clpb-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_clpb-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"clpb-def\" document-type=\"chapter\" object-id=\"clpb-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cnot1-vibos\"><title><italic toggle=\"yes\">CNOT1</italic>-Related Vissers-Bodmer Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">CNOT1</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Brouwer</surname><given-names>Arjan PM</given-names></name><degrees>PhD</degrees><email>arjan.debrouwer@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vissers</surname><given-names>Lisenka</given-names></name><degrees>PhD</degrees><email>lisenka.vissers@radboudumc.nl</email></contrib></contrib-group><?date-created 20260326?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cnot1-vibos.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cnot1-vibos.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cnot1-vibos\" document-type=\"chapter\" object-id=\"cnot1-vibos.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cockayne\"><title>Cockayne Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Laugel</surname><given-names>Vincent</given-names></name><degrees>MD, PhD</degrees><aff>Laboratory of Medical Genetics<break/>Strasbourg, France</aff><email>vincent.laugel@chru-strasbourg.fr</email></contrib></contrib-group><?date-created 20001228?><?date-updated 20240829?><?date-revised 20030924?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cockayne.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cockayne.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cockayne\" document-type=\"chapter\" object-id=\"cockayne.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_coffin-siris\"><title>Coffin-Siris Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Fifth Digit Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schrier Vergano</surname><given-names>Samantha</given-names></name><degrees>MD</degrees><aff>Division of Genetic Medicine<break/>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>samantha.vergano@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Santen</surname><given-names>Gijs</given-names></name><degrees>MD, PhD</degrees><aff>Department of Clinical Genetics<break/>Leiden University Medical Center<break/>Leiden, the Netherlands</aff><email>g.w.e.santen@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wieczorek</surname><given-names>Dagmar</given-names></name><degrees>MD</degrees><aff>Institute of Human Genetics<break/>Medical Faculty and University Hospital<break/>Heinrich Heine University<break/>D&#x000fc;sseldorf, Germany</aff><email>dagmar.wieczorek@med.uni-duesseldorf.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Matsumoto</surname><given-names>Naomichi</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>Yokohama City University Graduate School of Medicine<break/>Yokohama, Japan</aff><email>naomat@yokohama-cu.ac.jp</email></contrib></contrib-group><?date-created 20130404?><?date-updated 20250515?><?date-revised 20210812?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_coffin-siris.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coffin-siris.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coffin-siris\" document-type=\"chapter\" object-id=\"coffin-siris.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cohen\"><title>Cohen Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">VPS13B</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Heng</given-names></name><degrees>MD, PhD</degrees><aff>Pediatrician, Medical Director, DDC Clinic &#x02013; Center for Special Needs Children<break/>Middlefield, Ohio</aff><email>wang@ddcclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xin</surname><given-names>Baozhong</given-names></name><degrees>PhD</degrees><aff>Research and Technical Director, DDC Clinic &#x02013; Center for Special Needs Children<break/>Middlefield, Ohio</aff><email>bxin@ddcclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wensel</surname><given-names>Christine</given-names></name><degrees>MS</degrees><aff>Licensed Genetic Counselor, Robert J Tomsich Pathology and Laboratory Medicine<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>wenselc@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Traboulsi</surname><given-names>Elias I</given-names></name><degrees>MD, MEd</degrees><aff>Professor of Ophthalmology, Cleveland Clinic Foundation and Lerner College of Medicine<break/>Vice-Chair for Education and Head, Pediatric Ophthalmology and Strabismus<break/>Director, Center for Genetic Eye Diseases<break/>Cole Eye Institute<break/>Cleveland, Ohio</aff><email>traboue@ccf.org</email></contrib></contrib-group><?date-created 20060829?><?date-updated 20251204?><?date-revised 20061024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cohen.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cohen.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cohen\" document-type=\"chapter\" object-id=\"cohen.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_oi\"><title><italic toggle=\"yes\">COL1A1</italic>- and <italic toggle=\"yes\">COL1A2</italic>-Related Osteogenesis Imperfecta</title><subtitle content-type=\"alt-title\">Synonyms: Brittle Bone Disease, OI</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rodriguez Celin</surname><given-names>Mercedes</given-names></name><degrees>MD</degrees><email>mercedesrodriguezcelin@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steiner</surname><given-names>Robert D</given-names></name><degrees>MD</degrees><email>rdsteiner111@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Basel</surname><given-names>Donald</given-names></name><degrees>MD</degrees><email>dbasel@mcw.edu</email></contrib></contrib-group><?date-created 20050128?><?date-updated 20250529?><?date-revised 20240314?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_oi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oi\" document-type=\"chapter\" object-id=\"oi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_col4a1-dis\"><title><italic toggle=\"yes\">COL4A1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Plaisier</surname><given-names>Emmanuelle</given-names></name><degrees>MD, PhD</degrees><email>emmanuelle.plaisier@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ronco</surname><given-names>Pierre</given-names></name><degrees>MD, PhD</degrees><email>pierreronco@yahoo.fr</email></contrib></contrib-group><?date-created 20090625?><?date-updated 20160707?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_col4a1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_col4a1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"col4a1-dis\" document-type=\"chapter\" object-id=\"col4a1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ciss\"><title>Cold-Induced Sweating Syndrome Including Crisponi Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hahn</surname><given-names>Angelika F</given-names></name><degrees>MD, FRCP</degrees><aff>Department of Clinical Neurological Sciences\nLondon Health Sciences Centre\nWestern University\nLondon, Ontario, Canada</aff><email>angelika.hahn@lhsc.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knappskog</surname><given-names>Per Morten</given-names></name><degrees>PhD</degrees><aff>Center for Medical Genetics\nHaukeland University Hospital\nBergen, Norway</aff><email>per.knappskog@helse-bergen.no</email></contrib></contrib-group><?date-created 20110303?><?date-updated 20210812?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ciss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ciss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ciss\" document-type=\"chapter\" object-id=\"ciss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bethlem\"><title>Collagen VI-Related Dystrophies</title><subtitle content-type=\"alt-title\">Synonyms: COL6-Related Dystrophies (COL6-RDs)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Foley</surname><given-names>A Reghan</given-names></name><degrees>MD, MD(Res)</degrees><email>reghan.foley@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mohassel</surname><given-names>Payam</given-names></name><degrees>MD</degrees><email>payam.mohassel@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Donkervoort</surname><given-names>Sandra</given-names></name><degrees>MS, CGC</degrees><email>sandra.donkervoort@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bolduc</surname><given-names>V&#x000e9;ronique</given-names></name><degrees>PhD</degrees><email>veronique.bolduc@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>B&#x000f6;nnemann</surname><given-names>Carsten G</given-names></name><degrees>MD, habil</degrees><email>carsten.bonnemann@nih.gov</email></contrib></contrib-group><?date-created 20040625?><?date-updated 20210311?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bethlem.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bethlem.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bethlem\" document-type=\"chapter\" object-id=\"bethlem.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pai-1-def\"><title>Complete Plasminogen Activator Inhibitor 1 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Complete PAI-1 Deficiency, Homozygous PAI-1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Heiman</surname><given-names>Meadow</given-names></name><degrees>MS</degrees><email>mheiman@ihtc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gupta</surname><given-names>Sweta</given-names></name><degrees>MD</degrees><email>sgupta@ihtc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lewandowska</surname><given-names>Magdalena</given-names></name><degrees>MD</degrees><email>mlewandowska@ihtc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shapiro</surname><given-names>Amy D</given-names></name><degrees>MD</degrees><email>ashapiro@ihtc.org</email></contrib></contrib-group><?date-created 20170803?><?date-updated 20230223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pai-1-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pai-1-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pai-1-def\" document-type=\"chapter\" object-id=\"pai-1-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_psach\"><title><italic toggle=\"yes\">COMP</italic>-Related Pseudoachondroplasia</title><subtitle content-type=\"alt-title\">Synonym: Pseudoachondroplasia (PSACH)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Briggs</surname><given-names>Michael D</given-names></name><degrees>PhD</degrees><aff>Professor of Skeletal Genetics, Institute of Genetic Medicine<break/>Newcastle University<break/>International Centre for Life<break/>Newcastle upon Tyne, United Kingdom</aff><email>michael.briggs@newcastle.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wright</surname><given-names>Michael J</given-names></name><degrees>MB, ChB, MSc, FRCP</degrees><aff>Consultant in Clinical Genetics, Northern Genetics Service<break/>Newcastle upon Tyne Hospitals<break/>Newcastle upon Tyne, United Kingdom</aff><email>michael.wright@nuth.nhs.uk</email></contrib></contrib-group><?date-created 20040820?><?date-updated 20231130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_psach.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_psach.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"psach\" document-type=\"chapter\" object-id=\"psach.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ondine\"><title>Congenital Central Hypoventilation Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weese-Mayer</surname><given-names>Debra E</given-names></name><degrees>MD</degrees><email>dweese-mayer@luriechildrens.org</email><email>d-weese-mayer@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rand</surname><given-names>Casey M</given-names></name><degrees>BS</degrees><email>crand@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Khaytin</surname><given-names>Ilya</given-names></name><degrees>MD, PhD</degrees><email>ikhaytin@luriechildrens.org</email><email>ilya.khaytin@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Slattery</surname><given-names>Susan M</given-names></name><degrees>MD, MS</degrees><email>sslattery@luriechildrens.org</email><email>susan.slattery@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yap</surname><given-names>Kai Lee</given-names></name><degrees>PhD FACMG</degrees><email>klyap@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marazita</surname><given-names>Mary L</given-names></name><degrees>PhD, FACMG</degrees><email>marazita@pitt.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berry-Kravis</surname><given-names>Elizabeth M</given-names></name><degrees>MD, PhD</degrees><email>elizabeth_m_berry-kravis@rush.edu</email></contrib></contrib-group><?date-created 20040128?><?date-updated 20210128?><?date-revised 20080724?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ondine.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Genetically_Related_Allelic_disor\"><title>Genetically Related (Allelic) disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Genetically_Related_Allelic_disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ondine.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ondine\" document-type=\"chapter\" object-id=\"ondine.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cca\"><title>Congenital Contractural Arachnodactyly</title><subtitle content-type=\"alt-title\">Synonyms: Beals-Hecht Syndrome, Beals Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Callewaert</surname><given-names>Bert</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Ghent University Hospital<break/>Ghent, Belgium</aff><email>bert.callewaert@ugent.be</email></contrib></contrib-group><?date-created 20010123?><?date-updated 20191021?><?date-revised 20220714?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cca.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cca.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cca\" document-type=\"chapter\" object-id=\"cca.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_df-lamm\"><title>Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia</title><subtitle content-type=\"alt-title\">Synonyms: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia; LAMM Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ordonez</surname><given-names>Jessica</given-names></name><degrees>MS</degrees><aff>Division of Clinical Genetics<break/>Center for Genomic Medicine<break/>Miami Cancer Institute at Baptist Health South Florida<break/>Miami, Florida</aff><email>jessicaord@baptisthealth.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tekin</surname><given-names>Mustafa</given-names></name><degrees>MD</degrees><aff>Dr John T Macdonald Foundation<break/>Department of Human Genetics<break/>John P Hussman Institute for Human Genomics<break/>Miami, Florida</aff><email>mtekin@med.miami.edu</email></contrib></contrib-group><?date-created 20120920?><?date-updated 20190404?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_df-lamm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_df-lamm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"df-lamm\" document-type=\"chapter\" object-id=\"df-lamm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdh-ov\"><title>Congenital Diaphragmatic Hernia Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Longoni</surname><given-names>Mauro</given-names></name><degrees>MD</degrees><aff>Assistant Professor of Surgery, Harvard Medical School<break/>Assistant, Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>mlongoni@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pober</surname><given-names>Barbara R</given-names></name><degrees>MD</degrees><aff>Pediatrician, MassGeneral Hospital for Children<break/>Professor Emeritus of Pediatrics, Harvard Medical School<break/>Boston, Massachusetts</aff><email>pober.barbara@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>High</surname><given-names>Frances A</given-names></name><degrees>MD, PhD</degrees><aff>Division of Medical Genetics<break/>MassGeneral Hospital for Children<break/>Department of Surgery<break/>Boston Children&#x02019;s Hospital<break/>Boston, Massachusetts</aff><email>fhigh@partners.org</email></contrib></contrib-group><?date-created 20060201?><?date-updated 20190328?><?date-revised 20201105?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdh-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Clinical_Characteristics_of_Conge\"><title> Clinical Characteristics of Congenital Diaphragmatic Hernia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Clinical_Characteristics_of_Conge\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Genetic_Causes_of_Congenital_Diap\"><title> Genetic Causes of Congenital Diaphragmatic Hernia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Genetic_Causes_of_Congenital_Diap\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Evaluation_Strategies_to_Identify\"><title> Evaluation Strategies to Identify the Genetic Cause of Congenital Diaphragmatic Hernia in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Evaluation_Strategies_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdh-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdh-ov\" document-type=\"chapter\" object-id=\"cdh-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cda1\"><title>Congenital Dyserythropoietic Anemia Type I</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tamary</surname><given-names>Hannah</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics\nDirector, Hematology Diagnostic and Research Laboratory\nSchneider Children's Medical Center of Israel\nPetah Tiqva, Israel</aff><email>htamary@tauex.tau.ac.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dgany</surname><given-names>Orly</given-names></name><degrees>PhD</degrees><aff>Director, Pediatric Hematology Diagnostic Laboratory\nFelsenstein Medical Research Center\nBeilinson Campus\nPetah Tiqva, Israel</aff></contrib></contrib-group><?date-created 20090421?><?date-updated 20210729?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cda1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cda1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cda1\" document-type=\"chapter\" object-id=\"cda1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cep\"><title>Congenital Erythropoietic Porphyria</title><subtitle content-type=\"alt-title\">Synonym: G&#x000fc;nther Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Erwin</surname><given-names>Angelika</given-names></name><degrees>MD, PhD</degrees><email>erwina@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balwani</surname><given-names>Manisha</given-names></name><degrees>MD, MS</degrees><email>manisha.balwani@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Desnick</surname><given-names>Robert J</given-names></name><degrees>MD, PhD, FACMG</degrees><email>robert.desnick@mssm.edu</email></contrib><contrib contrib-type=\"author\"><collab>Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network</collab></contrib></contrib-group><?date-created 20130912?><?date-updated 20210415?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cep.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cep.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cep\" document-type=\"chapter\" object-id=\"cep.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cfeom\"><title>Congenital Fibrosis of the Extraocular Muscles Overview</title><subtitle content-type=\"alt-title\">Synonym: CFEOM</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitman</surname><given-names>Mary C</given-names></name><degrees>MD, PhD</degrees><email>mary.whitman@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jurgens</surname><given-names>Julie A</given-names></name><degrees>PhD</degrees><email>julie.jurgens@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunter</surname><given-names>David G</given-names></name><degrees>MD, PhD</degrees><email>david.hunter@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Engle</surname><given-names>Elizabeth C</given-names></name><degrees>MD</degrees><email>elizabeth.engle@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20040427?><?date-updated 20210812?><?date-revised 20111229?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cfeom.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Clinical_Characteristics_of_Congen\"><title> Clinical Characteristics of Congenital Fibrosis of the Extraocular Muscles</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Clinical_Characteristics_of_Congen\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Genetic_Causes_of_CFEOM\"><title> Genetic Causes of CFEOM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Genetic_Causes_of_CFEOM\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Differential_Diagnosis_of_CFEOM\"><title> Differential Diagnosis of CFEOM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Differential_Diagnosis_of_CFEOM\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Evaluation_Strategy_to_Identify_th\"><title> Evaluation Strategy to Identify the Genetic Cause of CFEOM in a Proband (When Possible)</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Evaluation_Strategy_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Management_of_CFEOM\"><title> Management of CFEOM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Management_of_CFEOM\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Genetic_Counseling_of_Family_Membe\"><title> Genetic Counseling of Family Members of an Individual with CFEOM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Genetic_Counseling_of_Family_Membe\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cfeom.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cfeom\" document-type=\"chapter\" object-id=\"cfeom.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hepatic-fibrosis\"><title>Congenital Hepatic Fibrosis Overview &#x02500; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gunay-Aygun</surname><given-names>Meral</given-names></name><degrees>MD</degrees><email>mgaygun@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gahl</surname><given-names>William A</given-names></name><degrees>MD, PhD</degrees><email>bgahl@helix.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Heller</surname><given-names>Theo</given-names></name><degrees>MD</degrees><email>theller@nih.gov</email></contrib></contrib-group><?date-created 20081209?><?date-updated 20140424?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hepatic-fibrosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Definition\"><title>Definition</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Definition\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Causes_of_Congenital_He\"><title>Causes of Congenital Hepatic Fibrosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Causes_of_Congenital_He\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Evaluation_Strategy\"><title>Evaluation Strategy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Evaluation_Strategy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hepatic-fibrosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hepatic-fibrosis\" document-type=\"chapter\" object-id=\"hepatic-fibrosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cip-overview\"><title>Congenital Insensitivity to Pain Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schon</surname><given-names>Katherine Rose</given-names></name><degrees>MB ChB, MRCP, MA</degrees><aff>Department of Clinical Genetics<break/>Addenbrooke's Hospital<break/>Cambridge, United Kingdom</aff><email>ks339@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parker</surname><given-names>Alasdair Patrick John</given-names></name><degrees>MBBS, MRCP, MD, MA</degrees><aff>Department of Paediatric Neurology<break/>Addenbrooke's Hospital<break/>Cambridge, United Kingdom</aff><email>apjparker@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Woods</surname><given-names>Christopher Geoffrey</given-names></name><degrees>MB ChB, FRCP, FMedSci</degrees><aff>Department of Medical Genetics<break/>The Clinical Medical School<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>cw347@cam.ac.uk</email></contrib></contrib-group><?date-created 20180208?><?date-revised 20200611?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cip-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of Congenital Insensitivity to Pain</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Causes_of_Congenital_Insens\"><title> Causes of Congenital Insensitivity to Pain</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Causes_of_Congenital_Insens\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Evaluation_Strategy_to_Iden\"><title> Evaluation Strategy to Identify the Genetic Cause of Congenital Insensitivity to Pain</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Evaluation_Strategy_to_Iden\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cip-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cip-overview\" document-type=\"chapter\" object-id=\"cip-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mirror\"><title>Congenital Mirror Movements</title><subtitle content-type=\"alt-title\">Synonym: Congenital Mirror Movement Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>M&#x000e9;neret</surname><given-names>Aur&#x000e9;lie</given-names></name><degrees>MD, PhD</degrees><email>aurelie.meneret@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trouillard</surname><given-names>Oriane</given-names></name><degrees>BS</degrees><email>oriane.trouillard@icm-institute.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dunoyer</surname><given-names>Margaux</given-names></name><degrees>MD</degrees><email>margaux.dunoyerdesegonzac@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Depienne</surname><given-names>Christel</given-names></name><degrees>PhD</degrees><email>christel.depienne@uni-due.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roze</surname><given-names>Emmanuel</given-names></name><degrees>MD, PhD</degrees><email>emmanuel.flamand-roze@aphp.fr</email></contrib></contrib-group><?date-created 20150312?><?date-updated 20200924?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mirror.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirror.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirror\" document-type=\"chapter\" object-id=\"mirror.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmd-overview\"><title>Congenital Muscular Dystrophy Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sparks</surname><given-names>Susan E</given-names></name><degrees>MD, PhD</degrees><aff>Sanofi Genzyme<break/>Cambridge, Massachusetts</aff><email>susan.sparks@genzyme.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quijano-Roy</surname><given-names>Susana</given-names></name><degrees>MD, PhD</degrees><aff>Neuromuscular Center (GNMH)<break/>Department of Pediatrics<break/>APHP-Raymond Poincar&#x000e9; University Hospital<break/>University of Versailles Saint Quentin-en-Yvelines<break/>Garches, France</aff><email>susana.quijano-roy@rpc.aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harper</surname><given-names>Amy</given-names></name><degrees>MD</degrees><aff>Pediatric Neuromuscular Disorders and Neurodevelopmental Disabilities<break/>Carolinas Pediatric Neurology Care &#x02013; Charlotte<break/>Levine Children's Hospital &#x02013; Carolinas Medical Center<break/>Charlotte, North Carolina</aff><email>amy.harper@carolinasheathcare.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rutkowski</surname><given-names>Anne</given-names></name><degrees>MD</degrees><aff>Chairman, Cure CMD<break/>Olathe, Kansas</aff><email>anne.rutkowski@curecmd.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordon</surname><given-names>Erynn</given-names></name><degrees>MS, CGC</degrees><aff>Coriell Institute for Medical Research<break/>Camden, New Jersey</aff><email>egordon@coriell.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoffman</surname><given-names>Eric P</given-names></name><degrees>PhD</degrees><aff>Research Center for Genetic Medicine<break/>Children's National Medical Center<break/>Washington, DC</aff><email>ehoffman@childrens-research.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pegoraro</surname><given-names>Elena</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurosciences<break/>University of Padova<break/>Padova, Italy</aff><email>elena.pegoraro@unipd.it</email></contrib></contrib-group><?date-created 20010122?><?date-updated 20110104?><?date-revised 20120823?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmd-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Definition_of_CMD\"><title>Definition of CMD</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Definition_of_CMD\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Subtypes_of_CMD\"><title>Subtypes of CMD</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Subtypes_of_CMD\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Establishing_the_Diagnosis\"><title>Establishing the Diagnosis of a CMD Subtype</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Establishing_the_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmd-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmd-overview\" document-type=\"chapter\" object-id=\"cmd-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cms\"><title>Congenital Myasthenic Syndromes Overview</title><subtitle content-type=\"alt-title\">Synonym: Congenital Myasthenia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abicht</surname><given-names>Angela</given-names></name><degrees>MD</degrees><aff>Medical Genetics Center (MGZ);<break/>Department of Neurology<break/>Friedrich-Baur Institute<break/>Munich, Germany</aff><email>angela.abicht@mgz-muenchen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>M&#x000fc;ller</surname><given-names>Juliane S</given-names></name><degrees>PhD</degrees><aff>Department of Clinical Neurosciences<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>jsm90@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lochm&#x000fc;ller</surname><given-names>Hanns</given-names></name><degrees>MD</degrees><aff>Children's Hospital of Eastern Ontario Research Institute;<break/>Division of Neurology<break/>Department of Medicine<break/>The Ottawa Hospital;<break/>Brain and Mind Research Institute<break/>University of Ottawa<break/>Ottawa, Canada</aff><email>hlochmuller@toh.ca</email></contrib></contrib-group><?date-created 20030509?><?date-updated 20211223?><?date-revised 20120628?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Clinical_Characteristics_of_Congenit\"><title> Clinical Characteristics of Congenital Myasthenic Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Clinical_Characteristics_of_Congenit\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Subtypes_and_Genetic_Causes_of_Conge\"><title> Subtypes and Genetic Causes of Congenital Myasthenic Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Subtypes_and_Genetic_Causes_of_Conge\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Differential_Diagnosis_of_Congenital\"><title> Differential Diagnosis of Congenital Myasthenic Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Differential_Diagnosis_of_Congenital\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of a Congenital Myasthenic Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cms\" document-type=\"chapter\" object-id=\"cms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nad-def\"><title>Congenital NAD Deficiency Disorder</title><subtitle content-type=\"alt-title\">Synonym: Vertebral, Cardiac, Renal, and Limb Defects (VCRL)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mark</surname><given-names>Paul</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Division of Medical Genetics<break/>Helen DeVos Children's Hospital<break/>Corewell Health;<break/>Department of Pediatrics and Human Development<break/>College of Human Medicine<break/>Michigan State University<break/>Grand Rapids, Michigan</aff><email>paul.mark@corewellhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dunwoodie</surname><given-names>Sally</given-names></name><degrees>PhD</degrees><aff>Developmental and Regenerative Biology Division<break/>Victor Chang Cardiac Research Institute;<break/>School of Clinical Medicine<break/>Faculty of Medicine and Health<break/>University of New South Wales<break/>Sydney, New South Wales, Australia</aff></contrib></contrib-group><?date-created 20230727?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nad-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nad-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nad-def\" document-type=\"chapter\" object-id=\"nad-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_csc-dys\"><title>Congenital Stromal Corneal Dystrophy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>R&#x000f8;dahl</surname><given-names>Eyvind</given-names></name><degrees>MD, PhD</degrees><email>eyvind.rodahl@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knappskog</surname><given-names>Per M</given-names></name><degrees>PhD</degrees><email>per.morten.knappskog@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bredrup</surname><given-names>Cecilie</given-names></name><degrees>MD, PhD</degrees><email>cecilie.bredrup@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boman</surname><given-names>Helge</given-names></name><degrees>MD, PhD</degrees><email>helge.boman@helse-bergen.no</email></contrib></contrib-group><?date-created 20081125?><?date-updated 20181129?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_csc-dys.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csc-dys.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csc-dys\" document-type=\"chapter\" object-id=\"csc-dys.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdls\"><title>Cornelia de Lange Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Brachmann-de Lange Syndrome (BDLS), CdLS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deardorff</surname><given-names>Matthew A</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Pathology and Pediatrics<break/>Children's Hospital Los Angeles<break/>Keck School of Medicine<break/>University of Southern California<break/>Los Angeles, California</aff><email>mdeardorff@chla.usc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raible</surname><given-names>Sarah E</given-names></name><degrees>MS</degrees><aff>Division of Human Genetics<break/>The Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>noons@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krantz</surname><given-names>Ian D</given-names></name><degrees>MD</degrees><aff>Division of Medical Genetics<break/>System Vice President Department of Pediatrics<break/>Zucker School of Medicine &#x02013; Hofstra University;<break/>Cohen Children's Medical Center&#x000a0;/ Northwell Health<break/>Great Neck, New York</aff><email>ikrantz@northwell.edu</email></contrib></contrib-group><?date-created 20050916?><?date-updated 20260616?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdls.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdls.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdls\" document-type=\"chapter\" object-id=\"cdls.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mga3\"><title>Costeff Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: 3-Methylglutaconic Aciduria Type 3, <italic toggle=\"yes\">OPA3</italic> Defect</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anikster</surname><given-names>Yair</given-names></name><degrees>MD, PhD</degrees><aff>Head of Metabolic Disease Unit\nEdmond and Lily Safra Children's Hospital\nSheba Medical Center\nTel Hashomer, Israel</aff><email>yair.anikster@sheba.health.gov.il</email></contrib></contrib-group><?date-created 20060728?><?date-updated 20200430?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mga3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mga3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mga3\" document-type=\"chapter\" object-id=\"mga3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ce-dysp\"><title>Cranioectodermal Dysplasia</title><subtitle content-type=\"alt-title\">Synonym: Sensenbrenner Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tan</surname><given-names>Weizhen</given-names></name><degrees>MD</degrees><aff>Clinical Instructor, Harvard Medical School<break/>Division of Pediatric Nephrology<break/>MassGeneral Hospital for Children<break/>Boston, Massachusetts</aff><email>wtan2@partners.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lin</surname><given-names>Angela</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Harvard Medical School<break/>Medical Genetics<break/>MassGeneral Hospital for Children<break/>Boston, Massachusetts</aff><email>lin.angela@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Keppler-Noreuil</surname><given-names>Kim</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Division Chief of Genetics &#x00026; Metabolism<break/>University of Wisconsin School of Medicine and Public Health<break/>Madison, Wisconsin</aff><email>kepplernoreu@wisc.edu</email></contrib></contrib-group><?date-created 20130912?><?date-updated 20210311?><?date-revised 20221215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ce-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ce-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ce-dysp\" document-type=\"chapter\" object-id=\"ce-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_creatine\"><title>Creatine Deficiency Disorders</title><subtitle content-type=\"alt-title\">Synonym: Cerebral Creatine Deficiency Disorders</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mercimek-Andrews</surname><given-names>Saadet</given-names></name><degrees>MD, PhD, FCCMG, FRCPC</degrees><aff>Associate Professor, Department of Medical Genetics<break/>Faculty of Medicine and Dentistry<break/>University of Alberta<break/>Edmonton, Alberta, Canada</aff><email>saadet@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salomons</surname><given-names>Gajja S</given-names></name><degrees>PhD</degrees><aff>Professor, Department of Clinical Chemistry<break/>Laboratory Genetic Metabolic Diseases<break/>Amsterdam University Medical Centers<break/>Amsterdam, the Netherlands</aff><email>g.salomons@amsterdamumc.nl</email></contrib></contrib-group><?date-created 20090115?><?date-updated 20220210?><?date-revised 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_creatine.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_creatine.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"creatine\" document-type=\"chapter\" object-id=\"creatine.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hdls\"><title><italic toggle=\"yes\">CSF1R</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dulski</surname><given-names>Jaroslaw</given-names></name><degrees>MD, PhD</degrees><email>dulski.jaroslaw@mayo.edu</email><email>jaroslaw.dulski@gumed.edu.pl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sundal</surname><given-names>Christina</given-names></name><degrees>MD, PhD</degrees><email>christinahsundal@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew K</given-names></name><degrees>MD</degrees><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20120830?><?date-updated 20240404?><?date-revised 20130117?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hdls.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hdls.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hdls\" document-type=\"chapter\" object-id=\"hdls.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_csnk2b-ndd\"><title><italic toggle=\"yes\">CSNK2B</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lippa</surname><given-names>Natalie</given-names></name><degrees>MS, CGC</degrees><aff>Department of Medicine<break/>Columbia University Vagelos College of Physicians and Surgeons<break/>New York, NY</aff><email>nl2528@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mulhern</surname><given-names>Maureen</given-names></name><degrees>MS, MAT, CGC</degrees><aff>Inter-Departmental Genetic Counseling Program<break/>Department of Neurology<break/>Precision Genomics Laboratory<break/>Columbia University Vagelos College of Physicians and Surgeons<break/>New York, NY</aff><email>mm4757@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ernst Florido</surname><given-names>Michelle</given-names></name><degrees>MS, CGC</degrees><aff>Department of Genetics &#x00026; Development<break/>Genetic Counseling Graduate Program<break/>Columbia University Vagelos College of Physicians and Surgeons<break/>New York, NY</aff><email>me2623@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Earley</surname><given-names>Chelsea</given-names></name><degrees>MD</degrees><aff>Fellow, Pediatric Clinical Epilepsy<break/>Columbia University Irving Medical Center<break/>New York, NY</aff><email>ce2383@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sands</surname><given-names>Tristan T</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Columbia University Vagelos College of Physicians and Surgeons<break/>New York, NY</aff><email>tts27@cumc.columbia.edu</email></contrib></contrib-group><?date-created 20240905?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_csnk2b-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnk2b-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnk2b-ndd\" document-type=\"chapter\" object-id=\"csnk2b-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ctcf-dis\"><title><italic toggle=\"yes\">CTCF</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Dominant Intellectual Disability 21, <italic toggle=\"yes\">CTCF</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valverde de Morales</surname><given-names>Hannah Gabriela</given-names></name><degrees>MD</degrees><email>gvalverde@integragenetics.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Hsiao-Lin</given-names></name><degrees>PhD</degrees><email>hsiao-lin.wang@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Garber</surname><given-names>Kathryn</given-names></name><degrees>PhD</degrees><email>kgarbe2@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Corces</surname><given-names>Victor</given-names></name><degrees>PhD</degrees><email>vcorces@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Li</surname><given-names>Hong</given-names></name><degrees>MD, PhD</degrees><email>hong.li@emory.edu</email></contrib></contrib-group><?date-created 20240425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ctcf-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctcf-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctcf-dis\" document-type=\"chapter\" object-id=\"ctcf-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ccfdn\"><title><italic toggle=\"yes\">CTDP1</italic>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">CTDP1</italic>-CCFDN</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalaydjieva</surname><given-names>Luba</given-names></name><degrees>MD, PhD</degrees><aff>Laboratory for Molecular Genetics<break/>Harry Perkins Institute of Medical Research and Centre for Medical Research<break/>The University of Western Australia<break/>Perth, Australia</aff><email>luba.kalaydjieva@uwa.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chamova</surname><given-names>Teodora</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>University Hospital Alexandrovska<break/>Medical University of Sofia<break/>Sofia, Bulgaria</aff><email>teodoratch@abv.bg</email></contrib></contrib-group><?date-created 20100302?><?date-updated 20221013?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ccfdn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccfdn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccfdn\" document-type=\"chapter\" object-id=\"ccfdn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ctnnb1-ndd\"><title><italic toggle=\"yes\">CTNNB1</italic> Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ho</surname><given-names>Stephanie KL</given-names></name><degrees>MD</degrees><email>stephanie_kl_ho@dh.gov.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tsang</surname><given-names>Mandy HY</given-names></name><degrees>MMSc</degrees><email>mandyhytsang@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Mianne</given-names></name><degrees>MSc</degrees><email>mianne2@connect.hku.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cheng</surname><given-names>Shirley SW</given-names></name><degrees>MD</degrees><email>shirley_s_cheng@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Luk</surname><given-names>Ho-ming</given-names></name><degrees>MD</degrees><email>lukhm@ha.org.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lo</surname><given-names>Ivan FM</given-names></name><degrees>MD</degrees><email>con_cg@dh.gov.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Brian HY</given-names></name><degrees>MD</degrees><email>bhychung@hku.hk</email><email>bhychung@genomics.org.hk</email></contrib></contrib-group><?date-created 20220519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ctnnb1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctnnb1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctnnb1-ndd\" document-type=\"chapter\" object-id=\"ctnnb1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cyld-cs\"><title><italic toggle=\"yes\">CYLD</italic> Cutaneous Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Brooke-Spiegler Syndrome (BSS), Familial Cylindromatosis (FC), Multiple Familial Trichoepithelioma (MFT)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dubois</surname><given-names>Anna</given-names></name><degrees>BSc, MBChB</degrees><email>anna.dubois@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rajan</surname><given-names>Neil</given-names></name><degrees>MBBS, PhD</degrees><email>neil.rajan@ncl.ac.uk</email></contrib></contrib-group><?date-created 20200416?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cyld-cs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyld-cs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyld-cs\" document-type=\"chapter\" object-id=\"cyld-cs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cf\"><title>Cystic Fibrosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savant</surname><given-names>Adrienne</given-names></name><degrees>MD, MS</degrees><email>asavant1@tulane.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lyman</surname><given-names>Benjamin</given-names></name><degrees>DO</degrees><email>blyman@lsuhsc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bojanowski</surname><given-names>Christine</given-names></name><degrees>MD, MSCR</degrees><email>cbojanowski@tulane.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Upadia</surname><given-names>Jariya</given-names></name><degrees>MD</degrees><email>jupadia@tulane.edu</email></contrib></contrib-group><?date-created 20010326?><?date-updated 20221110?><?date-revised 20240808?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cf\" document-type=\"chapter\" object-id=\"cf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ctns\"><title>Cystinosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nesterova</surname><given-names>Galina</given-names></name><degrees>MD</degrees><aff>Medical Advisor, Cystinosis Research Network</aff><email>gnesterova@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gahl</surname><given-names>William A</given-names></name><degrees>MD, PhD</degrees><aff>Senior Investigator, National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>gahlw@mail.nih.gov</email></contrib></contrib-group><?date-created 20010322?><?date-updated 20250814?><?date-revised 20171207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ctns.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ctns.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ctns\" document-type=\"chapter\" object-id=\"ctns.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cystinuria\"><title>Cystinuria</title><subtitle content-type=\"alt-title\">Synonyms: Cystine Nephrolithiasis, Cystine Stone Disease, Cystine Urolithiasis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Spasiano</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><email>andrea.spasiano@univr.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Halbritter</surname><given-names>Jan</given-names></name><degrees>MD</degrees><email>jan.halbritter@charite.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferraro</surname><given-names>Pietro Manuel</given-names></name><degrees>MD, MSc, PhD, FERA</degrees><email>pietromanuel.ferraro@univr.it</email></contrib></contrib-group><?date-created 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cystinuria.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cystinuria.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cystinuria\" document-type=\"chapter\" object-id=\"cystinuria.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_abs\"><title>Cytochrome P450 Oxidoreductase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: POR Deficiency, PORD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Idkowiak</surname><given-names>Jan</given-names></name><degrees>MD, PhD</degrees><email>j.idkowiak@bham.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cragun</surname><given-names>Deborah</given-names></name><degrees>MS, CGC</degrees><email>deborahcragun@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hopkin</surname><given-names>Robert J</given-names></name><degrees>MD</degrees><email>rob.hopkin@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arlt</surname><given-names>Wiebke</given-names></name><degrees>MD, DSc</degrees><email>w.arlt@bham.ac.uk</email></contrib></contrib-group><?date-created 20050908?><?date-updated 20170803?><?date-revised 20151102?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_abs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_abs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"abs\" document-type=\"chapter\" object-id=\"abs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-D?><toc-entry id=\"toc_danon\"><title>Danon Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Matthew RG</given-names></name><degrees>MD, PhD</degrees><aff>Adult Medical Genetics Program<break/>University of Colorado Anschutz Medical Campus<break/>Aurora, Colorado</aff><email>matthew.taylor@cuanschutz.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adler</surname><given-names>Eric D</given-names></name><degrees>MD</degrees><aff>Division of Cardiology<break/>University of California San Diego<break/>San Diego, California</aff><email>eradler@ucsd.edu</email></contrib></contrib-group><?date-created 20200305?><?date-revised 20240523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_danon.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_danon.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"danon\" document-type=\"chapter\" object-id=\"danon.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_diamond-b\"><title>DBA Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Diamond-Blackfan Anemia (DBA), Diamond-Blackfan Syndrome (DBS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sieff</surname><given-names>Colin</given-names></name><degrees>MBBCh, FRCPath</degrees><aff>Boston Children's Hospital and Dana Farber Cancer Institute<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>colin.sieff@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20090625?><?date-updated 20250731?><?date-revised 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_diamond-b.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diamond-b.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diamond-b\" document-type=\"chapter\" object-id=\"diamond-b.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_perry\"><title><italic toggle=\"yes\">DCTN1</italic>-Related Neurodegeneration</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dulski</surname><given-names>Jaroslaw</given-names></name><degrees>MD, PhD</degrees><aff>Division of Neurological and Psychiatric Nursing<break/>Faculty of Health Sciences<break/>Medical University of Gdansk;<break/>Neurology Department<break/>St Adalbert Hospital, Copernicus PL<break/>Gdansk, Poland</aff><email>jaroslaw.dulski@gumed.edu.pl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Konno</surname><given-names>Takuya</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Brain Research Institute<break/>Niigata University<break/>Niigata, Japan</aff><email>konno_t@bri.niigata-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Mayo Clinic<break/>Jacksonville, Florida</aff><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20100930?><?date-updated 20210805?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_perry.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perry.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perry\" document-type=\"chapter\" object-id=\"perry.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dcx\"><title><italic toggle=\"yes\">DCX</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Geis</surname><given-names>Tobias</given-names></name><degrees>MD</degrees><email>tobias.geis@barmherzige-regensburg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uyanik</surname><given-names>G&#x000f6;khan</given-names></name><degrees>MD</degrees><email>goekhan.uyanik@oegk.at</email><email>goekhan.uyanik@med.sfu.ac.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aigner</surname><given-names>Ludwig</given-names></name><degrees>PhD</degrees><email>ludwig.aigner@pmu.ac.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Couillard-Despres</surname><given-names>Sebastien</given-names></name><degrees>PhD</degrees><email>s.couillard-despres@pmu.ac.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Winkler</surname><given-names>J&#x000fc;rgen</given-names></name><degrees>MD</degrees><email>juergen.winkler@uk-erlangen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hehr</surname><given-names>Ute</given-names></name><degrees>MD</degrees><email>ute.hehr@klinik.uni-regensburg.de</email></contrib></contrib-group><?date-created 20071019?><?date-updated 20250605?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dcx.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcx.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcx\" document-type=\"chapter\" object-id=\"dcx.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_warsaw\"><title><italic toggle=\"yes\">DDX11</italic>-Related Cohesinopathy</title><subtitle content-type=\"alt-title\">Synonyms: Warsaw Breakage Syndrome (WABS), Warsaw Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkhunaizi</surname><given-names>Ebba</given-names></name><degrees>MD</degrees><email>ebba.alkhunaizi@mail.mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brosh</surname><given-names>Robert M</given-names><suffix>Jr</suffix></name><degrees>PhD</degrees><email>broshr@grc.nia.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chitayat</surname><given-names>David</given-names></name><degrees>MD</degrees><email>David.Chitayat@sinaihealth.ca</email></contrib></contrib-group><?date-created 20190606?><?date-updated 20250605?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_warsaw.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_warsaw.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"warsaw\" document-type=\"chapter\" object-id=\"warsaw.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ddx3x-ndd\"><title><italic toggle=\"yes\">DDX3X</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johnson-Kerner</surname><given-names>Bethany</given-names></name><degrees>MD, PhD</degrees><email>bethany.kerner@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Snijders Blok</surname><given-names>Lot</given-names></name><degrees>MD</degrees><email>lot.snijdersblok@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Suit</surname><given-names>Lindsey</given-names></name><degrees>BA</degrees><email>lindsey.suit@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thomas</surname><given-names>Julian</given-names></name><degrees>MD</degrees><email>julian.thomas@choc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kleefstra</surname><given-names>Tjitske</given-names></name><degrees>MD, PhD</degrees><email>tjitske.kleefstra@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sherr</surname><given-names>Elliott H</given-names></name><degrees>MD, PhD</degrees><email>elliott.sherr@ucsf.edu</email></contrib></contrib-group><?date-created 20200827?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ddx3x-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx3x-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx3x-ndd\" document-type=\"chapter\" object-id=\"ddx3x-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ddx41-mds\"><title><italic toggle=\"yes\">DDX41</italic>-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">DDX41</italic>-Related Myeloid Neoplasia, Myeloid Neoplasms with Germline <italic toggle=\"yes\">DDX41</italic> Mutation</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Churpek</surname><given-names>Jane E</given-names></name><degrees>MD, MS</degrees><aff>Assistant Professor, Division of Hematology, Oncology, and Palliative Care\nDepartment of Medicine\nUniversity of Wisconsin School of Medicine and Public Health\nMadison, Wisconsin</aff><email>jchurpek@wisc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith-Simmer</surname><given-names>Kelcy</given-names></name><degrees>MMSc, CGC</degrees><aff>Genetic Counselor, Oncology Genetics\nUniversity of Wisconsin Carbone Cancer Center\nUW Health\nAdjunct Assistant Professor, Master of Genetic Counselor Studies\nDepartment of Pediatrics\nUniversity of Wisconsin School of Medicine and Public Health\nMadison, Wisconsin</aff><email>ksmith-simmer@uwhealth.org</email></contrib></contrib-group><?date-created 20211028?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ddx41-mds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddx41-mds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddx41-mds\" document-type=\"chapter\" object-id=\"ddx41-mds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ddon\"><title>Deafness-Dystonia-Optic Neuronopathy Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: DDON, Mohr-Tranebjaerg Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tranebj&#x000e6;rg</surname><given-names>Lisbeth</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Medical Genetics and Genetic Audiology<break/>Department of Clinical Genetics<break/>University Hospital/The Kennedy Center<break/>Institute of Clinical Medicine;<break/>The Panum Institute<break/>University of Copenhagen<break/>Copenhagen, Denmark</aff><email>tranebjaerg@sund.ku.dk</email><email>lisbeth.tranebjaerg@regionh.dk</email></contrib></contrib-group><?date-created 20030206?><?date-updated 20191121?><?date-revised 20090324?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ddon.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ddon.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ddon\" document-type=\"chapter\" object-id=\"ddon.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dent\"><title>Dent Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lieske</surname><given-names>John C</given-names></name><degrees>MD</degrees><email>lieske.john@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milliner</surname><given-names>Dawn S</given-names></name><degrees>MD</degrees><email>milliner.dawn@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Beara-Lasic</surname><given-names>Lada</given-names></name><degrees>MD</degrees><email>ladabl@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harris</surname><given-names>Peter</given-names></name><degrees>PhD</degrees><email>harris.peter@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cogal</surname><given-names>Andrea</given-names></name><degrees>BS</degrees><email>cogal.andrea@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abrash</surname><given-names>Elizabeth</given-names></name><degrees>BA</degrees><email>ewabrash@gmail.com</email></contrib></contrib-group><?date-created 20120809?><?date-updated 20171214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dent.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dent.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dent\" document-type=\"chapter\" object-id=\"dent.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dguok-mtddepl\"><title>Deoxyguanosine Kinase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: DGUOK Deficiency; <italic toggle=\"yes\">DGUOK</italic>-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>fscaglia@bcm.edu</email></contrib></contrib-group><?date-created 20090618?><?date-updated 20230209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dguok-mtddepl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dguok-mtddepl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dguok-mtddepl\" document-type=\"chapter\" object-id=\"dguok-mtddepl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_depdc5-epilepsy\"><title><italic toggle=\"yes\">DEPDC5</italic>-Related Epilepsy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baulac</surname><given-names>St&#x000e9;phanie</given-names></name><degrees>PhD</degrees><email>stephanie.baulac@icm-institute.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baldassari</surname><given-names><?break?>Sara</given-names></name><degrees>PhD</degrees><email>sara.baldassari@icm-institute.org</email></contrib></contrib-group><?date-created 20160929?><?date-updated 20230309?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_depdc5-epilepsy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_depdc5-epilepsy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"depdc5-epilepsy\" document-type=\"chapter\" object-id=\"depdc5-epilepsy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dfna2\"><title>DFNA2 Nonsyndromic Hearing Loss</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><aff>Director, Molecular Otolaryngology Research Laboratories\nSterba Hearing Research Professor of Otolaryngology\nProfessor of Otolaryngology, Pediatrics, and Internal Medicine, Division of Nephrology\nCarver College of Medicine\nUniversity of Iowa\nIowa City, Iowa</aff><email>richard-smith@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hildebrand</surname><given-names>Michael</given-names></name><degrees>PhD</degrees><aff>Department of Medicine\nUniversity of Melbourne\nMelbourne, Australia</aff><email>michael.hildebrand@unimelb.edu.au</email></contrib></contrib-group><?date-created 20080404?><?date-updated 20180510?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dfna2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfna2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfna2\" document-type=\"chapter\" object-id=\"dfna2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dmtn\"><title>Diabetes Mellitus, 6q24-Related Transient Neonatal</title><subtitle content-type=\"alt-title\">Synonym: 6q24-TNDM</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Temple</surname><given-names>Isabel Karen</given-names></name><degrees>MD, MBChB, FRCP</degrees><email>ikt@southampton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mackay</surname><given-names>Deborah JG</given-names></name><degrees>PhD, MA</degrees><email>djgm@southampton.ac.uk</email></contrib></contrib-group><?date-created 20051010?><?date-updated 20180913?><?date-revised 20101223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dmtn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmtn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmtn\" document-type=\"chapter\" object-id=\"dmtn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_diastrophic-d\"><title>Diastrophic Dysplasia</title><subtitle content-type=\"alt-title\">Synonym: Diastrophic Dwarfism, <italic toggle=\"yes\">SLC26A2</italic>-Related Diastrophic Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Associate Professor, Service of Genetic MedicineLausanne University HospitalLausanne, Switzerland</aff><email>sheila.unger@chuv.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Professor of Genetics, Service of Genetic MedicineLausanne University HospitalLausanne, Switzerland</aff><email>asuperti@unil.ch</email></contrib></contrib-group><?date-created 20041115?><?date-updated 20211223?><?date-revised 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_diastrophic-d.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_diastrophic-d.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"diastrophic-d\" document-type=\"chapter\" object-id=\"diastrophic-d.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pp-blastoma\"><title><italic toggle=\"yes\">DICER1-</italic>Related Tumor Predisposition</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">DICER1</italic> Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome, <italic toggle=\"yes\">DICER1</italic> Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schultz</surname><given-names>Kris Ann P</given-names></name><degrees>MD</degrees><email>krisann.schultz@childrensmn.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nelson</surname><given-names>Alexander T</given-names></name><degrees>MD</degrees><email>anelso13@bidmc.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kamihara</surname><given-names>Junne</given-names></name><degrees>MD, PhD</degrees><email>junne_kamihara@dfci.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bauer</surname><given-names>Andrew J</given-names></name><degrees>MD</degrees><email>bauera@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hatton</surname><given-names>Jessica</given-names></name><degrees>MS, CGC</degrees><email>jessica.hatton@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Merideth</surname><given-names>Melissa A</given-names></name><degrees>MD, MPH</degrees><email>mmeridet@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stratton</surname><given-names>Pamela</given-names></name><degrees>MD</degrees><email>strattop@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harris</surname><given-names>Anne K</given-names></name><degrees>MPH</degrees><email>anne.harris@childrensmn.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Field</surname><given-names>Amanda</given-names></name><degrees>MPH</degrees><email>mandy@resourecepath.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dehner</surname><given-names>Louis P</given-names></name><degrees>MD</degrees><email>dehner@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stewart</surname><given-names>Douglas R</given-names></name><degrees>MD</degrees><email>drstewart@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hill</surname><given-names>D Ashley</given-names></name><degrees>MD</degrees><email>hilldanaa@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Messinger</surname><given-names>Yoav H</given-names></name><degrees>MD</degrees><email>yoav.messinger@childrensmn.org</email></contrib></contrib-group><?date-created 20140424?><?date-updated 20260325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pp-blastoma.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pp-blastoma.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pp-blastoma\" document-type=\"chapter\" object-id=\"pp-blastoma.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hgc\"><title>Diffuse Gastric and Lobular Breast Cancer Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: DGLBCS, Hereditary Diffuse Gastric Cancer (HDGC)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barbosa-Matos</surname><given-names>Rita</given-names></name><degrees>BSc, PhD</degrees><aff>i3S - Instituto de Investiga&#x000e7;&#x000e3;o e Inova&#x000e7;&#x000e3;o em Sa&#x000fa;de<break/>University of Porto<break/>Porto, Portugal</aff><email>amatos@i3s.up.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>C&#x000f3;rdova</surname><given-names>Lilian</given-names></name><degrees>MD</degrees><aff>Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, Canada</aff><email>lilian.cordova@bccancer.bc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schrader</surname><given-names>Kasmintan</given-names></name><degrees>MBBS, PhD</degrees><aff>Program Medical Co-Director, Hereditary Cancer<break/>BC Cancer;<break/>Assistant Professor, Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, Canada</aff><email>ischrader@bccancer.bc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oliveira</surname><given-names>Carla</given-names></name><degrees>PhD</degrees><aff>i3S - Instituto de Investiga&#x000e7;&#x000e3;o e Inova&#x000e7;&#x000e3;o em Sa&#x000fa;de;<break/>Institute of Molecular Pathology and Immunology;<break/>Faculty of Medicine<break/>University of Porto<break/>Porto, Portugal</aff><email>carlaol@i3s.up.pt</email></contrib></contrib-group><?date-created 20021104?><?date-updated 20241010?><?date-revised 20060831?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hgc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgc\" document-type=\"chapter\" object-id=\"hgc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dld-def\"><title>Dihydrolipoamide Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: DLD Deficiency, E3 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quinonez</surname><given-names>Shane C</given-names></name><degrees>MD</degrees><aff>Clinical Assistant Professor\nUniversity of Michigan\nAnn Arbor, Michigan</aff><email>squinon@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thoene</surname><given-names>Jess G</given-names></name><degrees>MD</degrees><aff>Active Emeritus Professor of Pediatrics\nUniversity of Michigan\nAnn Arbor, Michigan</aff><email>jthoene@med.umich.edu</email></contrib></contrib-group><?date-created 20140717?><?date-updated 20200709?><?date-revised 20210930?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dld-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dld-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dld-def\" document-type=\"chapter\" object-id=\"dld-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dhpr-def\"><title>Dihydropteridine Reductase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: DHPR Deficiency, DYT/PARK<italic toggle=\"yes\">-QDPR</italic>, <italic toggle=\"yes\">QDPR</italic>-Related Tetrahydrobiopterin Deficiency, Quinoid Dihydropteridine Reductase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Longo</surname><given-names>Nicola</given-names></name><degrees>MD, PhD</degrees><aff>Division of Clinical Genetics<break/>Department of Human Genetics<break/>University of California Los Angeles<break/>Los Angeles, California</aff><email>nlongo@mednet.ucla.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Opladen</surname><given-names>Thomas</given-names></name><degrees>MD</degrees><aff>Division of Pediatric Neurology and Metabolic Medicine<break/>Department I<break/>Center for Pediatric and Adolescent Medicine<break/>Medical Faculty Heidelberg<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>thomas.opladen@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Blau</surname><given-names>Nenad</given-names></name><degrees>PhD</degrees><aff>Division of Metabolism<break/>University Children's Hospital Zurich<break/>Zurich, Switzerland</aff><email>nenad.blau@kispi.uzh.ch</email></contrib></contrib-group><?date-created 20260602?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dhpr-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dhpr-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dhpr-def\" document-type=\"chapter\" object-id=\"dhpr-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dcm-ov\"><title>Dilated Cardiomyopathy Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hershberger</surname><given-names>Ray E</given-names></name><degrees>MD</degrees><aff>Professor of Medicine, Divisions of Human Genetics and Cardiovascular Medicine<break/>The Ohio State University<break/>Columbus, Ohio</aff><email>ray.hershberger@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jordan</surname><given-names>Elizabeth</given-names></name><degrees>MS, LGC</degrees><aff>Assistant Professor, Division of Human Genetics<break/>The Ohio State University<break/>Columbus, Ohio</aff><email>elizabeth.jordan@osumc.edu</email></contrib></contrib-group><?date-created 20070727?><?date-updated 20210729?><?date-revised 20241212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dcm-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Dilated_Cardiomyopathy_DCM_Defini\"><title> Dilated Cardiomyopathy (DCM): Definition</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Dilated_Cardiomyopathy_DCM_Defini\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Dilated_Cardiomyopathy_DCM_Catego\"><title> Dilated Cardiomyopathy (DCM): Categories</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Dilated_Cardiomyopathy_DCM_Catego\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Establishing_When_Possible_the_Sp\"><title> Establishing (When Possible) the Specific Genetic Cause of DCM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Establishing_When_Possible_the_Sp\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Genetic_Risk_Assessment_and_Cardi\"><title> Genetic Risk Assessment and Cardiac Surveillance of At-Risk Relatives for Detection of Early Treatable Manifestations of DCM</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Genetic_Risk_Assessment_and_Cardi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-ov\" document-type=\"chapter\" object-id=\"dcm-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnas-dis\"><title>Disorders of <italic toggle=\"yes\">GNAS</italic> Inactivation</title><subtitle content-type=\"alt-title\">Synonym: Gs&#x003b1; Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haldeman-Englert</surname><given-names>Chad R</given-names></name><degrees>MD, FACMG</degrees><aff>Fullerton Genetics Center<break/>Asheville, North Carolina</aff><email>chad.haldeman-englert@msj.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hurst</surname><given-names>Anna CE</given-names></name><degrees>MD, MS</degrees><aff>Department of Genetics<break/>University of Alabama at Birmingham<break/>Birmingham, Alabama</aff><email>acehurst@uab.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levine</surname><given-names>Michael A</given-names></name><degrees>MD, FAAP, FACP, MACE</degrees><aff>Department of Pediatrics, Division of Endocrinology and Diabetes<break/>Children's Hospital of Philadelphia;<break/>University of Pennsylvania Perelman School of Medicine<break/>Philadelphia, Pennsylvania</aff><email>levinem@chop.edu</email></contrib></contrib-group><?date-created 20171026?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnas-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnas-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnas-dis\" document-type=\"chapter\" object-id=\"gnas-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cbl\"><title>Disorders of Intracellular Cobalamin Metabolism</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sloan</surname><given-names>Jennifer L</given-names></name><degrees>PhD, MS</degrees><email>jsloan@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carrillo</surname><given-names>Nuria</given-names></name><degrees>MD</degrees><email>carrilln@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adams</surname><given-names>David</given-names></name><degrees>MD, PhD</degrees><email>dadams1@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Venditti</surname><given-names>Charles P</given-names></name><degrees>MD, PhD</degrees><email>venditti@mail.nih.gov</email></contrib></contrib-group><?date-created 20080225?><?date-updated 20180906?><?date-revised 20211216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cbl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cbl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cbl\" document-type=\"chapter\" object-id=\"cbl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dlg4-synap\"><title><italic toggle=\"yes\">DLG4</italic>-Related Synaptopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>T&#x000fc;mer</surname><given-names>Zeynep</given-names></name><degrees>MD, PhD, DMSc</degrees><email>zeynep.tumer@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dye</surname><given-names>Thomas J</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prada</surname><given-names>Carlos</given-names></name><degrees>MD</degrees><email>cprada@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>White-Brown</surname><given-names>Alexandre M</given-names></name><degrees>MSc</degrees><email>awhitebrown@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacKenzie</surname><given-names>Alex</given-names></name><degrees>MD</degrees><email>mackenzie@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levy</surname><given-names>Amanda M</given-names></name><degrees>MSc</degrees><email>marie.amanda.bust.levy@regionh.dk</email></contrib></contrib-group><?date-created 20230622?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dlg4-synap.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dlg4-synap.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dlg4-synap\" document-type=\"chapter\" object-id=\"dlg4-synap.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dnajc6-pd\"><title><italic toggle=\"yes\">DNAJC6</italic> Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonym: PARK-<italic toggle=\"yes\">DNAJC6</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>MRCPCH, PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abela</surname><given-names>Lucia</given-names></name><degrees>MD, MSc</degrees><email>lucia.abela@ucl.ac.uk</email></contrib></contrib-group><?date-created 20210513?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dnajc6-pd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnajc6-pd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnajc6-pd\" document-type=\"chapter\" object-id=\"dnajc6-pd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dnmt1-ddsn\"><title><italic toggle=\"yes\">DNMT1</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein</surname><given-names>Christopher J</given-names></name><degrees>MD</degrees><aff>Mayo Clinic<break/>Rochester, Minnesota</aff><email>klein.christopher@mayo.edu</email></contrib></contrib-group><?date-created 20120216?><?date-updated 20190131?><?date-revised 20120517?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dnmt1-ddsn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dnmt1-ddsn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dnmt1-ddsn\" document-type=\"chapter\" object-id=\"dnmt1-ddsn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_donnai\"><title>Donnai-Barrow Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: DBS/FOAR Syndrome, Faciooculoacousticorenal Syndrome, FOAR Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Longoni</surname><given-names>Mauro</given-names></name><degrees>MD</degrees><aff>Assistant Professor of Surgery, Harvard Medical School<break/>Assistant, Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>mlongoni@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kantarci</surname><given-names>Sibel</given-names></name><degrees>PhD, FACMG</degrees><aff>Cytogenetics and Genomics<break/>Quest Diagnostics Nichols Institute<break/>Cytogenetics and Genomics<break/>San Juan Capistrano, California</aff><email>sibel.x.kantarci@questdiagnostics.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Donnai</surname><given-names>Dian</given-names></name><degrees>MD</degrees><aff>Manchester Centre for Genomic Medicine<break/>University of Manchester<break/>St Mary's Hospital<break/>Manchester, United Kingdom</aff><email>dian.donnai@mft.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pober</surname><given-names>Barbara R</given-names></name><degrees>MD</degrees><aff>Pediatrician, Mass General Hospital for Children<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>pober.barbara@mgh.harvard.edu</email></contrib></contrib-group><?date-created 20080828?><?date-updated 20181121?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_donnai.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_donnai.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"donnai\" document-type=\"chapter\" object-id=\"donnai.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dbh\"><title>Dopamine Beta-Hydroxylase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biaggioni</surname><given-names>Italo</given-names></name><degrees>MD</degrees><aff>Professor, Departments of Medicine and Pharmacology<break/>Vanderbilt University Medical Center<break/>Nashville, Tennessee</aff><email>italo.biaggioni@vumc.org</email></contrib></contrib-group><?date-created 20030904?><?date-updated 20240926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dbh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbh\" document-type=\"chapter\" object-id=\"dbh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_drpla\"><title>DRPLA</title><subtitle content-type=\"alt-title\">Synonym: Dentatorubral-Pallidoluysian Atrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prades</surname><given-names>Silvia</given-names><suffix>PhD</suffix></name><email>spradesabadias@ataxia.org.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Melo de Gusmao</surname><given-names>Claudio</given-names><suffix>MD</suffix></name></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grimaldi</surname><given-names>Silvia</given-names><suffix>MD</suffix></name></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shiloh-Malawsky</surname><given-names>Yael</given-names><suffix>MD</suffix></name></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Felton</surname><given-names>Thomas</given-names><suffix>MS, CGC</suffix></name></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names><suffix>MD, PhD</suffix></name><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 19990806?><?date-updated 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_drpla.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drpla.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drpla\" document-type=\"chapter\" object-id=\"drpla.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_duane\"><title>Duane Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Duane Anomaly, Isolated; Duane Retraction Syndrome; Stilling-Turk-Duane Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barry</surname><given-names>Brenda J</given-names></name><degrees>MS</degrees><email>brenda.barry2@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitman</surname><given-names>Mary C</given-names></name><degrees>MD, PhD</degrees><email>mary.whitman@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunter</surname><given-names>David G</given-names></name><degrees>MD, PhD</degrees><email>david.hunter@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Engle</surname><given-names>Elizabeth C</given-names></name><degrees>MD</degrees><email>elizabeth.engle@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20070525?><?date-updated 20190829?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_duane.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duane.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duane\" document-type=\"chapter\" object-id=\"duane.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_duarte-gal\"><title>Duarte Galactosemia</title><subtitle content-type=\"alt-title\">Synonym: Duarte Variant Galactosemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fridovich-Keil</surname><given-names>Judith L</given-names></name><degrees>PhD</degrees><email>jfridov@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gambello</surname><given-names>Michael J</given-names></name><degrees>MD, PhD</degrees><email>mgambel@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Singh</surname><given-names>Rani H</given-names></name><degrees>PhD, RD</degrees><email>rsingh@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sharer</surname><given-names>J Daniel</given-names></name><degrees>PhD</degrees><email>dsharer@uab.edu</email></contrib></contrib-group><?date-created 20141204?><?date-updated 20251204?><?date-revised 20200625?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_duarte-gal.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_duarte-gal.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"duarte-gal\" document-type=\"chapter\" object-id=\"duarte-gal.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dync1h1-dis\"><title><italic toggle=\"yes\">DYNC1H1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>M&#x000f6;ller</surname><given-names>Birk</given-names></name><email>bmoelle2@smail.uni-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coppola</surname><given-names>Antonietta</given-names></name><degrees>MD, PhD</degrees><email>antonietta.coppola1@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jungbluth</surname><given-names>Heinz</given-names></name><degrees>MD, PhD</degrees><email>heinz.jungbluth@kcl.ac.uk</email><email>heinz.jungbluth@gstt.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dafsari</surname><given-names>Hormos Salimi</given-names></name><degrees>Dr med</degrees><email>hormos.dafsari@uk-koeln.de</email></contrib></contrib-group><?date-created 20240321?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dync1h1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dync1h1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dync1h1-dis\" document-type=\"chapter\" object-id=\"dync1h1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dyrk1a-id\"><title><italic toggle=\"yes\">DYRK1A</italic> Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Bon</surname><given-names>Bregje WM</given-names></name><degrees>MD, PhD</degrees><email>bregje.vanbon@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coe</surname><given-names>Bradley P</given-names></name><degrees>PhD</degrees><email>bcoe@u.washington.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eichler</surname><given-names>Evan E</given-names></name><degrees>PhD</degrees><email>eee@gs.washington.edu</email></contrib></contrib-group><?date-created 20151217?><?date-updated 20210318?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dyrk1a-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dyrk1a-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dyrk1a-id\" document-type=\"chapter\" object-id=\"dyrk1a-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_miyoshi\"><title>Dysferlinopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aoki</surname><given-names>Masashi</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Tohoku University School of Medicine<break/>Sendai, Japan</aff><email>aokim@med.tohoku.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Takahashi</surname><given-names>Toshiaki</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>National Hospital Organization &#x02013; Sendai-Nishitaga Hospital<break/>Sendai, Japan</aff><email>takahashi.toshiaki.hj@mail.hosp.go.jp</email></contrib></contrib-group><?date-created 20040205?><?date-updated 20210527?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_miyoshi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miyoshi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miyoshi\" document-type=\"chapter\" object-id=\"miyoshi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dkc\"><title>Dyskeratosis Congenita and Related Telomere Biology Disorders</title><subtitle content-type=\"alt-title\">Synonym: Zinsser-Cole-Engman Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savage</surname><given-names>Sharon A</given-names></name><degrees>MD</degrees><email>savagesh@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Niewisch</surname><given-names>Marena R</given-names></name><degrees>MD</degrees><email>marena.niewisch@nih.gov</email></contrib></contrib-group><?date-created 20091112?><?date-updated 20220331?><?date-revised 20230119?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dkc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dkc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dkc\" document-type=\"chapter\" object-id=\"dkc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ebd\"><title>Dystrophic Epidermolysis Bullosa</title><subtitle content-type=\"alt-title\">Synonyms: DEB, Epidermolysis Bullosa Dystrophica</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lucky</surname><given-names>Anne W</given-names></name><degrees>MD</degrees><aff>Emeritus Professor of Dermatology and Pediatrics<break/>Cincinnati Children's Epidermolysis Bullosa Center<break/>Cincinnati Children's Hospital<break/>Cincinnati, Ohio</aff><email>annewlucky@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pope</surname><given-names>Elena</given-names></name><degrees>MD, MSc</degrees><aff>Division of Pediatric Dermatology<break/>Hospital for Sick Children;<break/>Temerty Faculty of Medicine<break/>University of Toronto<break/>Toronto, Ontario, Canada</aff><email>elena.pope@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crawford</surname><given-names>Sarah</given-names></name><degrees>MMSc, CGC</degrees><aff>Genetic Counselor<break/>Division of Human Genetics<break/>Cincinnati Children's Hospital<break/>Cincinnati, Ohio</aff><email>sarah.crawford2@cchmc.org</email></contrib></contrib-group><?date-created 20060821?><?date-updated 20250327?><?date-revised 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ebd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebd\" document-type=\"chapter\" object-id=\"ebd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dbmd\"><title>Dystrophinopathies</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Darras</surname><given-names>Basil T</given-names></name><degrees>MD</degrees><aff>Director, Neuromuscular Center<break/>Department of Neurology<break/>Boston Children&#x02019;s Hospital<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>basil.darras@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Urion</surname><given-names>David K</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Boston Children&#x02019;s Hospital<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>david.urion@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ghosh</surname><given-names>Partha S</given-names></name><degrees>MD</degrees><aff>Neuromuscular Center<break/>Department of Neurology<break/>Boston Children&#x02019;s Hospital<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>partha.ghosh@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20000905?><?date-updated 20180426?><?date-revised 20220120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dbmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dbmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dbmd\" document-type=\"chapter\" object-id=\"dbmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnal-dystonia\"><title>DYT-<italic toggle=\"yes\">GNAL</italic></title><subtitle content-type=\"alt-title\">Synonyms: DYT25, <italic toggle=\"yes\">GNAL</italic>-Related Dystonia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deutschl&#x000e4;nder</surname><given-names>Angela B</given-names></name><degrees>MD</degrees><aff>Departments of Neurology, Neuroscience, and Clinical Genomics<break/>Mayo Clinic<break/>Jacksonville, Florida</aff><email>deutschlander.angela@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew K</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Mayo Clinic<break/>Jacksonville, Florida</aff><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20190103?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnal-dystonia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnal-dystonia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnal-dystonia\" document-type=\"chapter\" object-id=\"gnal-dystonia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dystonia\"><title>DYT-<italic toggle=\"yes\">TOR1A</italic></title><subtitle content-type=\"alt-title\">Synonyms: DYT1 Early-Onset Isolated Dystonia, Early-Onset Torsion Dystonia, Oppenheim Dystonia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ozelius</surname><given-names>Laurie</given-names></name><degrees>PhD</degrees><aff>Department of Neurology<break/>Massachusetts General Hospital<break/>Charlestown, Massachusetts</aff><email>mailto:laurie.ozelius@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lubarr</surname><given-names>Naomi</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Mount Sinai Beth Israel<break/>New York, New York</aff><email>naomi.lubarr@mountsinai.org</email></contrib></contrib-group><?date-created 19990414?><?date-updated 20251120?><?date-revised 20101123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dystonia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia\" document-type=\"chapter\" object-id=\"dystonia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-E?><toc-entry id=\"toc_ebf3-ndd\"><title><italic toggle=\"yes\">EBF3</italic> Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Narayanan</surname><given-names>Dhanya Lakshmi</given-names></name><degrees>MD, DM</degrees><email>dhanya.lakshmi@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kutsche</surname><given-names>Kerstin</given-names></name><degrees>PhD</degrees><email>kkutsche@uke.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girisha</surname><given-names>Katta M</given-names></name><degrees>MD, DM</degrees><email>girish.katta@manipal.edu</email></contrib></contrib-group><?date-created 20210506?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ebf3-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebf3-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebf3-ndd\" document-type=\"chapter\" object-id=\"ebf3-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-dcdp\"><title><italic toggle=\"yes\">EBP-</italic>Related X-Linked Chondrodysplasia Punctata</title><subtitle content-type=\"alt-title\">Synonyms: Conradi-H&#x000fc;nermann-Happle Syndrome, X-Linked Chondrodysplasia Punctata 2 (CDPX2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kumble</surname><given-names>Smitha</given-names></name><degrees>MBBS, FRACP</degrees><aff>Victorian Clinical Genetics Service<break/>Murdoch Children's Research Institute<break/>Parkville, Victoria, Australia</aff><email>smitha.kumble@vcgs.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><aff>Victorian Clinical Genetics Service<break/>Murdoch Children's Research Institute<break/>Parkville, Victoria, Australia<break/>The University of Melbourne<break/>Melbourne, Australia</aff><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20110531?><?date-updated 20260604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-dcdp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-dcdp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-dcdp\" document-type=\"chapter\" object-id=\"x-dcdp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eed-og\"><title><italic toggle=\"yes\">EED</italic>-Related Overgrowth</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sequerra Amram Cohen</surname><given-names>Ana</given-names></name><degrees>PhD</degrees><aff>Assistant Professor of Pathology<break/>University of Missouri-Kansas City School of Medicine;<break/>Assistant Director, Molecular Genetics<break/>Children's Mercy Kansas City<break/>Kansas City, Missouri</aff><email>acohen1@cmh.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gibson</surname><given-names>William Thomas</given-names></name><degrees>MD, PhD, FRCPC, FCCMG, FACMG, FRSM (UK)</degrees><aff>Professor, UBC Department of Medical Genetics;<break/>Senior Clinician Scientist, BC Children's Hospital<break/>Vancouver, British Columbia, Canada</aff><email>wtgibson@bcchr.ca</email></contrib></contrib-group><?date-created 20190411?><?date-updated 20250508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eed-og.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eed-og.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eed-og\" document-type=\"chapter\" object-id=\"eed-og.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa\"><title><italic toggle=\"yes\">EFEMP2</italic>-Related Cutis Laxa</title><subtitle content-type=\"alt-title\">Synonym: Autosomal Recessive Cutis Laxa Type 1B (ARCL1B)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Loeys</surname><given-names>Bart</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Antwerp University Hospital<break/>Antwerp, Belgium</aff><email>bart.loeys@uantwerp.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Paepe</surname><given-names>Anne</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Ghent University Hospital<break/>Ghent, Belgium</aff><email>anne.depaepe@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Urban</surname><given-names>Zsolt</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Graduate School of Public Health<break/>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>urbanz@pitt.edu</email></contrib></contrib-group><?date-created 20110512?><?date-updated 20201022?><?date-revised 20230615?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_efemp2-cutis-laxa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_efemp2-cutis-laxa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"efemp2-cutis-laxa\" document-type=\"chapter\" object-id=\"efemp2-cutis-laxa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cyclic-n\"><title><italic toggle=\"yes\">ELANE</italic>-Related Neutropenia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dale</surname><given-names>David C</given-names></name><degrees>MD</degrees><aff>Professor, Department of Medicine\nUniversity of Washington Medical Center\nSeattle, Washington</aff><email>dcdale@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Makaryan</surname><given-names>Vahagn</given-names></name><degrees>MD</degrees><aff>Department of Medicine\nUniversity of Washington Medical Center\nSeattle, Washington</aff><email>vahagm@uw.edu</email></contrib></contrib-group><?date-created 20020617?><?date-updated 20180823?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cyclic-n.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cyclic-n.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cyclic-n\" document-type=\"chapter\" object-id=\"cyclic-n.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya\"><title>El-Hattab-Alkuraya Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">WDR45B</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Genetics and Precision Medicine Department<break/>King Abdullah Specialized Children's Hospital<break/>King Abdulaziz Medical City<break/>Ministry of National Guard Health Affairs<break/>Riyadh, Saudi Arabia</aff><email>mmannai81@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marafi</surname><given-names>Dana</given-names></name><degrees>MD, MSc</degrees><aff>Department of Pediatrics<break/>Faculty of Medicine<break/>Kuwait University<break/>Jabriya, Kuwait</aff><email>dana.marafie@ku.edu.kw</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib></contrib-group><?date-created 20220929?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_el-hattab-alkuraya.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Clinical_Characterist\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Clinical_Characterist\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Genetically_Related_A\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Genetically_Related_A\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Differential_Diagnosi\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Differential_Diagnosi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_el-hattab-alkuraya.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"el-hattab-alkuraya\" document-type=\"chapter\" object-id=\"el-hattab-alkuraya.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_evc\"><title>Ellis-van Creveld Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Chondroectodermal Dysplasia (Ellis-van Creveld)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Da Silva</surname><given-names>Jorge Diogo</given-names></name><degrees>MD, PhD</degrees><email>jorge.diogo.silva@chporto.min-saude.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tkachenko</surname><given-names>Nataliya</given-names></name><degrees>MD</degrees><email>natalia.tkachenko@chporto.min-saude.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Soares</surname><given-names>Ana Rita</given-names></name><degrees>MD</degrees><email>ana.rita.soares@chporto.min-saude.pt</email></contrib></contrib-group><?date-created 20231026?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_evc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_evc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"evc\" document-type=\"chapter\" object-id=\"evc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eln-cutis-laxa\"><title><italic toggle=\"yes\">ELN</italic>-Related Cutis Laxa</title><subtitle content-type=\"alt-title\">Synonym: Autosomal Dominant Cutis Laxa Type 1 (ADCL1)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Callewaert</surname><given-names>Bert L</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Ghent University Hospital<break/>Ghent, Belgium</aff><email>bert.callewaert@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Urban</surname><given-names>Zsolt</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>University of Pittsburgh Graduate School of Public Health<break/>Pittsburgh, Pennsylvania</aff><email>urbanz@pitt.edu</email></contrib></contrib-group><?date-created 20220929?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eln-cutis-laxa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eln-cutis-laxa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eln-cutis-laxa\" document-type=\"chapter\" object-id=\"eln-cutis-laxa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_emanuel\"><title>Emanuel Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Supernumerary der(22)t(11;22) Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Emanuel</surname><given-names>Beverly S</given-names></name><degrees>PhD, FACMG</degrees><aff>Chief Emeritus, Division of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, Pennsylvania</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zackai</surname><given-names>Elaine H</given-names></name><degrees>MD, FACMG</degrees><aff>Director, Clinical Genetics\nDivision of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, Pennsylvania</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Medne</surname><given-names>Livija</given-names></name><degrees>MS, CGC</degrees><aff>Genetic Counselor, Division of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, Pennsylvania</aff></contrib></contrib-group><?date-created 20070420?><?date-updated 20170831?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_emanuel.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emanuel.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emanuel\" document-type=\"chapter\" object-id=\"emanuel.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_emc10-ndd\"><title><italic toggle=\"yes\">EMC10</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Umair</surname><given-names>Muhammad</given-names></name><degrees>PhD</degrees><aff>Medical Genomics Research Department<break/>King Abdullah International Medical Research Center (KAIMRC)<break/>King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS)<break/>Ministry of National Guard Health Affairs (MNGHA)<break/>Riyadh, Saudi Arabia</aff><email>umairmu@mngha.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alfadhel</surname><given-names>Majid</given-names></name><degrees>MD, MHSc, SSC-Ped, ABHS(CH), FCCMG</degrees><aff>Genetics and Precision Medicine Department<break/>King Abdullah Specialized Children Hospital (KASCH)<break/>King Abdulaziz Medical City<break/>Ministry of National Guard Health Affairs (MNGHA)<break/>Riyadh, Saudi Arabia</aff><email>dralfadhelm@gmail.com</email><email>fadhelma@mngha.med.sa</email></contrib></contrib-group><?date-created 20230615?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_emc10-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_emc10-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"emc10-ndd\" document-type=\"chapter\" object-id=\"emc10-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_edmd\"><title>Emery-Dreifuss Muscular Dystrophy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ben Yaou</surname><given-names>Rabah</given-names></name><degrees>MD</degrees><email>r.benyaou@institut-myologie.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leturcq</surname><given-names>France</given-names></name><degrees>MD</degrees><email>france.leturcq@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bonne</surname><given-names>Gis&#x000e8;le</given-names></name><degrees>PhD</degrees><email>gisele.bonne@inserm.fr</email></contrib></contrib-group><?date-created 20040929?><?date-updated 20250918?><?date-revised 20100824?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_edmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edmd\" document-type=\"chapter\" object-id=\"edmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eccl\"><title>Encephalocraniocutaneous Lipomatosis</title><subtitle content-type=\"alt-title\">Synonyms: Fishman Syndrome, Haberland Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moog</surname><given-names>Ute</given-names></name><degrees>MD</degrees><aff>Institute of Human Genetics<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>ute.moog@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobyns</surname><given-names>William B</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>University of Minnesota<break/>Minneapolis, Minnesota</aff><email>wbdobyns@umn.edu</email></contrib></contrib-group><?date-created 20220127?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eccl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eccl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eccl\" document-type=\"chapter\" object-id=\"eccl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_msx2\"><title>Enlarged Parietal Foramina</title><subtitle content-type=\"alt-title\">Synonym: Symmetric Parietal Foramina</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mavrogiannis</surname><given-names>Lampros A</given-names></name><degrees>MSc, DPhil</degrees><aff>Genetics Laboratory<break/>St James University Hospital<break/>Leeds, United Kingdom</aff><email>lampros.mavrogiannis@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wilkie</surname><given-names>Andrew OM</given-names></name><degrees>MA, DM, FRCP</degrees><aff>University of Oxford<break/>Oxford, United Kingdom</aff><email>andrew.wilkie@imm.ox.ac.uk</email></contrib></contrib-group><?date-created 20040330?><?date-updated 20250626?><?date-revised 20040526?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_msx2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msx2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msx2\" document-type=\"chapter\" object-id=\"msx2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_entpd1-ndd\"><title><italic toggle=\"yes\">ENTPD1</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive Spastic Paraplegia 64, HSP-<italic toggle=\"yes\">ENTPD1,</italic> Spastic Paraplegia 64 (SPG64)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Calame</surname><given-names>Daniel</given-names></name><degrees>MD, PhD</degrees><email>daniel.calame@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Herman</surname><given-names>Isabella</given-names></name><degrees>MD, PhD</degrees><email>isabellg@bcm.edu</email></contrib></contrib-group><?date-created 20230601?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_entpd1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_entpd1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"entpd1-ndd\" document-type=\"chapter\" object-id=\"entpd1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epb42-spherocytosis\"><title><italic toggle=\"yes\">EPB42</italic>-Related Hereditary Spherocytosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalfa</surname><given-names>Theodosia A</given-names></name><degrees>MD, PhD</degrees><aff>Cancer and Blood Diseases Institute\nDivision of Hematology\nCincinnati Children's Hospital Medical Center and University of Cincinnati Medical School\nCincinnati, Ohio</aff><email>theodosia.kalfa@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Begtrup</surname><given-names>Amber H</given-names></name><degrees>PhD, FACMG</degrees><aff>GeneDx, Inc\nGaithersburg, Maryland</aff><email>abegtrup@genedx.com</email></contrib></contrib-group><?date-created 20140313?><?date-updated 20220407?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epb42-spherocytosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Clinical_Characteris\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Clinical_Characteris\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Genetically_Related\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Genetically_Related\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Differential_Diagnos\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Differential_Diagnos\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epb42-spherocytosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epb42-spherocytosis\" document-type=\"chapter\" object-id=\"epb42-spherocytosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epg5\"><title><italic toggle=\"yes\">EPG5</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dafsari</surname><given-names>Hormos Salimi</given-names></name><degrees>MD</degrees><email>hormos.dafsari@uk-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saffari</surname><given-names>Afshin</given-names></name><degrees>MD</degrees><email>afshin.saffari@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deneubourg</surname><given-names>Celine</given-names></name><degrees>MSc</degrees><email>celine.deneubourg@kcl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fanto</surname><given-names>Manolis</given-names></name><degrees>PhD</degrees><email>manolis.fanto@kcl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jungbluth</surname><given-names>Heinz</given-names></name><degrees>MD, PhD</degrees><email>heinz.jungbluth@gstt.nhs.uk</email><email>heinz.jungbluth@kcl.ac.uk</email></contrib></contrib-group><?date-created 20221013?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epg5.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epg5.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epg5\" document-type=\"chapter\" object-id=\"epg5.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ebs\"><title>Epidermolysis Bullosa Simplex</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>So</surname><given-names>Jodi Y</given-names></name><degrees>BA</degrees><email>jodiso@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Teng</surname><given-names>Joyce</given-names></name><degrees>MD, PhD</degrees><email>jteng3@stanford.edu</email></contrib></contrib-group><?date-created 19981007?><?date-updated 20220804?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ebs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebs\" document-type=\"chapter\" object-id=\"ebs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eb-pa\"><title>Epidermolysis Bullosa with Pyloric Atresia</title><subtitle content-type=\"alt-title\">Synonym: EB-PA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lucky</surname><given-names>Anne W</given-names></name><degrees>MD</degrees><aff>Director, Cincinnati Children's Epidermolysis Bullosa Center<break/>Cincinnati Children's Hospital<break/>Cincinnati, Ohio</aff><email>annewlucky@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gorell</surname><given-names>Emily</given-names></name><degrees>DO, MS</degrees><aff>Dermatology Resident, Department of Dermatology<break/>University of Cincinnati College of Medicine<break/>Cincinnati, OH</aff><email>gorelley@ucmail.uc.edu</email></contrib></contrib-group><?date-created 20080222?><?date-updated 20230126?><?date-revised 20090428?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eb-pa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eb-pa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eb-pa\" document-type=\"chapter\" object-id=\"eb-pa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gale-def\"><title>Epimerase Deficiency Galactosemia</title><subtitle content-type=\"alt-title\">Synonyms: Galactosemia Type III, GALE Deficiency, UDP-Galactose-4'-Epimerase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fridovich-Keil</surname><given-names>Judith</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Emory University School of Medicine<break/>Atlanta, Georgia</aff><email>jfridov@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bean</surname><given-names>Lora</given-names></name><degrees>PhD</degrees><aff>PerkinElmer Genomics, Inc<break/>Pittsburgh, Pennsylvania</aff><email>lora.bean@perkinelmer.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>He</surname><given-names>Miao</given-names></name><degrees>PhD</degrees><aff>Department of Pathology and Laboratory Medicine<break/>University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>hem@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schroer</surname><given-names>Richard</given-names></name><degrees>MD</degrees><aff>Greenwood Genetic Center<break/>Greenwood, South Carolina</aff><email>schroer@ggc.org</email></contrib></contrib-group><?date-created 20110125?><?date-updated 20210304?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gale-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gale-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gale-def\" document-type=\"chapter\" object-id=\"gale-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ea1\"><title>Episodic Ataxia Type 1</title><subtitle content-type=\"alt-title\">Synonym: EA1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hasan</surname><given-names>Sonia M</given-names></name><degrees>PhD</degrees><aff>Department of Physiology\nFaculty of Medicine\nKuwait University\nKuwait City, Kuwait</aff><email>sonia@hsc.edu.kw</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>D'Adamo</surname><given-names>Maria Cristina</given-names></name><degrees>PhD</degrees><aff>Department of Physiology and Biochemistry\nUniversity of Malta\nMsida, Malta</aff><email>cristina.dadamo@um.edu.mt</email></contrib></contrib-group><?date-created 20100209?><?date-updated 20180531?><?date-revised 20181101?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ea1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ea1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ea1\" document-type=\"chapter\" object-id=\"ea1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epp-ar\"><title>Erythropoietic Protoporphyria, Autosomal Recessive</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balwani</surname><given-names>Manisha</given-names></name><degrees>MD, MS</degrees><email>manisha.balwani@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bloomer</surname><given-names>Joseph</given-names></name><degrees>MD</degrees><email>jbloomer@uab.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Desnick</surname><given-names>Robert</given-names></name><degrees>MD, PhD, FACMG</degrees><email>robert.desnick@mssm.edu</email></contrib><contrib contrib-type=\"author\"><collab>Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network</collab></contrib></contrib-group><?date-created 20120927?><?date-updated 20170907?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epp-ar.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-ar.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-ar\" document-type=\"chapter\" object-id=\"epp-ar.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rbs\"><title><italic toggle=\"yes\">ESCO2</italic> Spectrum Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vega</surname><given-names>Hugo</given-names></name><degrees>MD, PhD</degrees><aff>Nursing Department<break/>Nursing Informatics Program<break/>School of Professional Studies<break/>City University of New York<break/>New York, New York</aff><email>huvega@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordillo</surname><given-names>Miriam</given-names></name><degrees>PhD</degrees><aff>Department of Surgery<break/>Weill Cornell Medical College<break/>New York, New York</aff><email>mig2021@med.cornell.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jabs</surname><given-names>Ethylin Wang</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>jabs.ethylin@mayo.edu</email></contrib></contrib-group><?date-created 20060418?><?date-updated 20250814?><?date-revised 20090414?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rbs\" document-type=\"chapter\" object-id=\"rbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tef-ov\"><title>Esophageal Atresia / Tracheoesophageal Fistula Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><subtitle content-type=\"alt-title\">EA/TEF Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scott</surname><given-names>Daryl A</given-names></name><degrees>MD, PhD</degrees><aff>Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>dscott@bcm.edu</email></contrib></contrib-group><?date-created 20090312?><?date-updated 20180920?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tef-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Clinical_Characteristics_of_EATEF\"><title> Clinical Characteristics of EA/TEF</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Clinical_Characteristics_of_EATEF\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Genetic_Causes_of_EATEF\"><title> Genetic Causes of EA/TEF</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Genetic_Causes_of_EATEF\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Evaluation_Strategies_to_Identify\"><title> Evaluation Strategies to Identify the Genetic Cause of EA/TEF in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Evaluation_Strategies_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Management_of_EATEF\"><title> Management of EA/TEF</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Management_of_EATEF\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tef-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tef-ov\" document-type=\"chapter\" object-id=\"tef-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ee\"><title>Ethylmalonic Encephalopathy</title><subtitle content-type=\"alt-title\">Synonym: ETHE1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Di Meo</surname><given-names>Ivano</given-names></name><degrees>PhD</degrees><email>ivano.dimeo@istituto-besta.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lamperti</surname><given-names>Costanza</given-names></name><degrees>MD</degrees><email>costanza.lamperti@istituto-besta.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tiranti</surname><given-names>Valeria</given-names></name><degrees>PhD</degrees><email>valeria.tiranti@istituto-besta.it</email></contrib></contrib-group><?date-created 20170921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ee.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ee.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ee\" document-type=\"chapter\" object-id=\"ee.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_etv6-tpl\"><title><italic toggle=\"yes\">ETV6-</italic>Related Thrombocytopenia and Predisposition to Leukemia</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ETV6</italic>-Linked Leukemia&#x000a0;/ Familial Thrombocytopenia Syndrome, Thrombocytopenia 5 (THC5)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pencheva</surname><given-names>Bojana</given-names></name><degrees>MMSc, CGC</degrees><aff>ABGC Certified Genetic Counselor, Cancer Predisposition Clinic<break/>Emory University School of Medicine &#x00026; Aflac Cancer and Blood Disorders Center<break/>Children's Healthcare of Atlanta<break/>Atlanta, Georgia</aff><email>bojana.borislavova.pencheva@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Di Paola</surname><given-names>Jorge</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics and Molecular Genetics &#x00026; Genomics<break/>Washington University School of Medicine<break/>St Louis Children's Hospital<break/>St Louis, Missouri</aff><email>dipaolaj@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Porter</surname><given-names>Christopher C</given-names></name><degrees>MD</degrees><aff>Professor, Department of Pediatrics<break/>Emory University School of Medicine &#x00026; Aflac Cancer and Blood Disorders Center<break/>Children's Healthcare of Atlanta<break/>Atlanta, Georgia</aff><email>chris.porter@emory.edu</email></contrib></contrib-group><?date-created 20201119?><?date-updated 20250626?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_etv6-tpl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etv6-tpl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etv6-tpl\" document-type=\"chapter\" object-id=\"etv6-tpl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_exoc6b-semd\"><title><italic toggle=\"yes\">EXOC6B</italic>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity</title><subtitle content-type=\"alt-title\">Synonym: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhavani</surname><given-names>Gandham SriLakshmi</given-names></name><degrees>MSc, PhD</degrees><email>gsl.bhavani@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Singh</surname><given-names>Swati</given-names></name><degrees>MSc</degrees><email>swatisingh0730@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girisha</surname><given-names>Katta Mohan</given-names></name><degrees>MD, DM, PhD</degrees><email>girish.katta@manipal.edu</email><email>g.kumar@squ.edu.om</email></contrib></contrib-group><?date-created 20230525?><?date-revised 20250717?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_exoc6b-semd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exoc6b-semd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exoc6b-semd\" document-type=\"chapter\" object-id=\"exoc6b-semd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p\"><title><italic toggle=\"yes\">EXOSC3</italic> Pontocerebellar Hypoplasia</title><subtitle content-type=\"alt-title\">Synonym: Pontocerebellar Hypoplasia Type 1B (PCH1B)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baas</surname><given-names>Frank</given-names></name><degrees>MD, PhD</degrees><email>f.baas@amc.uva.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Dijk</surname><given-names>Tessa</given-names></name><degrees>MD, PhD</degrees></contrib></contrib-group><?date-created 20140821?><?date-updated 20200924?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_exosc3-pc-hypo-p.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_exosc3-pc-hypo-p.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"exosc3-pc-hypo-p\" document-type=\"chapter\" object-id=\"exosc3-pc-hypo-p.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_weaver\"><title><italic toggle=\"yes\">EZH2</italic>-Related Overgrowth</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ocansey</surname><given-names>Sharon</given-names></name><degrees>MBBS, BSc, MSc</degrees><aff>Specialist Registrar in Clinical Genetics<break/>St George's University Hospital NHS Foundation Trust<break/>London, United Kingdom</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tatton-Brown</surname><given-names>Katrina</given-names></name><degrees>BM BCh, MD</degrees><aff>Professor and Consultant in Clinical Genetics<break/>St George's University of London;<break/>St George's University Hospital NHS Foundation Trust<break/>London, United Kingdom</aff><email>katrina.tattonbrown@stgeorges.nhs.uk</email></contrib></contrib-group><?date-created 20130718?><?date-updated 20240321?><?date-revised 20250626?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_weaver.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weaver.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weaver\" document-type=\"chapter\" object-id=\"weaver.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-F?><toc-entry id=\"toc_fabry\"><title>Fabry Disease</title><subtitle content-type=\"alt-title\">Synonyms: Alpha-Galactosidase A Deficiency, Anderson-Fabry Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mehta</surname><given-names>Atul</given-names></name><degrees>MA, MD, FRCP, FRCPath</degrees><aff>Emeritus Professor, Department of Haematology<break/>University College London School of Medicine<break/>London, United Kingdom</aff><email>atul.mehta1@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hughes</surname><given-names>Derralynn A</given-names></name><degrees>MA, DPhil, FRCP, FRCPath</degrees><aff>Professor, Experimental Haematology<break/>Lysosomal Storage Disorders Unit<break/>Department of Haematology<break/>Royal Free Hospital<break/>University College London<break/>London, United Kingdom</aff><email>rmgvdah@ucl.ac.uk</email></contrib></contrib-group><?date-created 20020805?><?date-updated 20220127?><?date-revised 20240411?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fabry.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fabry.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fabry\" document-type=\"chapter\" object-id=\"fabry.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fsh\"><title>Facioscapulohumeral Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonyms: FSHD, FSH Muscular Dystrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Preston</surname><given-names>Matthew K</given-names></name><degrees>MD</degrees><email>preston4@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Leo H</given-names></name><degrees>MD, PhD</degrees><email>leowang@uw.edu</email></contrib></contrib-group><?date-created 19990308?><?date-updated 20250710?><?date-revised 20140320?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fsh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fsh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fsh\" document-type=\"chapter\" object-id=\"fsh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_factor-v-leiden\"><title>Factor V Leiden Thrombophilia</title><subtitle content-type=\"alt-title\">Synonym: Hereditary Resistance to Activated Protein C</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pastori</surname><given-names>Daniele</given-names></name><degrees>MD, PhD, FESC</degrees><email>daniele.pastori@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Menichelli</surname><given-names>Danilo</given-names></name><degrees>MD</degrees><email>danilo.menichelli@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valeriani</surname><given-names>Emanuele</given-names></name><degrees>MD</degrees><email>emanuele.valeriani@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pignatelli</surname><given-names>Pasquale</given-names></name><degrees>MD, PhD</degrees><email>pasquale.pignatelli@uniroma1.it</email></contrib></contrib-group><?date-created 19990514?><?date-updated 20240516?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_factor-v-leiden.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_factor-v-leiden.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"factor-v-leiden\" document-type=\"chapter\" object-id=\"factor-v-leiden.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fam111a-dysp\"><title><italic toggle=\"yes\">FAM111A</italic>-Related Skeletal Dysplasias</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cheng</surname><given-names>Shirley</given-names></name><degrees>MD</degrees><email>shirley.cheng@ha.org.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lo</surname><given-names>Ivan FM</given-names></name><degrees>MD</degrees><email>con_cg@dh.gov.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Luk</surname><given-names>Ho-Ming</given-names></name><degrees>MD</degrees><email>lukhm@ha.org.hk</email></contrib></contrib-group><?date-created 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fam111a-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fam111a-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fam111a-dysp\" document-type=\"chapter\" object-id=\"fam111a-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ccm\"><title>Familial Cerebral Cavernous Malformations</title><subtitle content-type=\"alt-title\">Synonyms: Familial Cavernous Hemangioma, Familial Cerebral Cavernous Angioma, Familial Cerebral Cavernous Malformation Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Flemming</surname><given-names>Kelly D</given-names></name><degrees>MD</degrees><aff>Mayo Clinic<break/>Rochester, Minnesota</aff><email>flemming.kelly@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Edward</given-names></name><degrees>MD</degrees><aff>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>edward.smith@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marchuk</surname><given-names>Douglas</given-names></name><degrees>PhD</degrees><aff>Duke University<break/>Durham, North Carolina</aff><email>douglas.marchuk@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Derry</surname><given-names>W Brent</given-names></name><degrees>PhD</degrees><aff>The Hospital for Sick Children<break/>Toronto, Ontario, Canada</aff><email>brent.derry@sickkids.ca</email></contrib></contrib-group><?date-created 20030224?><?date-updated 20230727?><?date-revised 20060713?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ccm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ccm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ccm\" document-type=\"chapter\" object-id=\"ccm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fch\"><title>Familial Combined Hypolipidemia</title><subtitle content-type=\"alt-title\">Synonyms: Angiopoietin-Like Protein 3 (ANGPTL3) Deficiency, Familial Combined Hypobetalipoproteinemia Type 2 (FHBL2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><aff>Department of Clinical Biochemistry<break/>Royal Perth Hospital &#x00026; Fiona Stanley Hospital Network<break/>PathWest Laboratory Medicine WA;<break/>Faculty of Health &#x00026; Medical Sciences<break/>School of Medicine<break/>University of Western Australia<break/>Perth, Australia</aff><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><aff>Department of Clinical Biochemistry<break/>Royal Perth Hospital &#x00026; Fiona Stanley Hospital Network<break/>PathWest Laboratory Medicine WA;<break/>School of Medicine<break/>University of Western Australia<break/>Perth, Australia</aff><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><aff>Departments of Medicine and Biochemistry<break/>Schulich School of Medicine and Robarts Research Institute<break/>Western University<break/>London, Ontario, Canada</aff><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20230720?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fch.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fch.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fch\" document-type=\"chapter\" object-id=\"fch.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fd\"><title>Familial Dysautonomia</title><subtitle content-type=\"alt-title\">Synonyms: Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III), Riley-Day Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bar-Aluma</surname><given-names>Bat-El</given-names></name><degrees>MD</degrees><aff>Pediatric Pulmonology Unit<break/>National Center for Familial Dysautonomia<break/>Edmond and Lily Safra Children's Hospital<break/>Sheba Medical Center;<break/>Sackler Faculty of Medicine<break/>Tel Aviv University<break/>Tel Aviv, Israel</aff><email>batel.baraluma@sheba.health.gov.il</email></contrib></contrib-group><?date-created 20030121?><?date-updated 20211104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fd\" document-type=\"chapter\" object-id=\"fd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fhm\"><title>Familial Hemiplegic Migraine</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jen</surname><given-names>Joanna C</given-names></name><degrees>MD, PhD</degrees><aff>Department of NeurologyIcahn School of Medicine at Mount SinaiNew York, New York</aff><email>joanna.jen@mssm.edu</email></contrib></contrib-group><?date-created 20010717?><?date-updated 20210429?><?date-revised 20240704?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fhm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhm\" document-type=\"chapter\" object-id=\"fhm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hlh\"><title>Familial Hemophagocytic Lymphohistiocytosis</title><subtitle content-type=\"alt-title\">Synonyms: Familial Erythrophagocytic Lymphohistiocytosis, Primary Hemophagocytic Lymphohistiocytosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhang</surname><given-names>Kejian</given-names></name><degrees>MD, MBA</degrees><aff>Mount Sinai Genomics;<break/>Sema4<break/>New York, New York</aff><email>kejian.zhang2017@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Astigarraga</surname><given-names>Itziar</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>Hospital Universitario Cruces<break/>Osakidetza<break/>IIS Biocruces Bizkaia<break/>UPV/EHU<break/>Barakaldo, Spain</aff><email>itziar.astigarraga@osakidetza.eus</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bryceson</surname><given-names>Yenan</given-names></name><degrees>PhD</degrees><aff>Department of Medicine<break/>Karolinska Institutet<break/>Stockholm, Sweden</aff><email>yenan.bryceson@ki.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lehmberg</surname><given-names>Kai</given-names></name><degrees>MD</degrees><aff>Department of Pediatric Hematology and Oncology<break/>Division of Pediatric Stem Cell Transplantation and Immunology<break/>University Medical Center Eppendorf<break/>Hamburg, Germany</aff><email>k.lehmberg@uke.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Machowicz</surname><given-names>Rafal</given-names></name><degrees>MD</degrees><aff>Medical University of Warsaw<break/>Warsaw, Poland</aff><email>r.machowicz@wp.pl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marsh</surname><given-names>Rebecca</given-names></name><degrees>MD</degrees><aff>Cincinnati Children's Hospital;<break/>University of Cincinnati<break/>Cincinnati, Ohio</aff><email>rebecca.marsh@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sieni</surname><given-names>Elena</given-names></name><degrees>MD</degrees><aff>Meyer Children's University Hospital<break/>Florence, Italy</aff><email>elena.sieni@meyer.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Zhao</given-names></name><degrees>MD</degrees><aff>Department of Hematology<break/>Beijing Friendship Hospital<break/>Capital Medical University<break/>Beijing, China</aff><email>zhaowww263@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nichols</surname><given-names>Kim E</given-names></name><degrees>MD</degrees><aff>Department of Oncology<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>kim.nichols@stjude.org</email></contrib></contrib-group><?date-created 20060322?><?date-updated 20210930?><?date-revised 20240606?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hlh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlh\" document-type=\"chapter\" object-id=\"hlh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyperchol\"><title>Familial Hypercholesterolemia</title><subtitle content-type=\"alt-title\">Synonyms: Familial Hypercholesterol&#x000e6;mia, Hyperlipoproteinemia Type IIA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ison</surname><given-names>Hannah E</given-names></name><degrees>MS, LCGC</degrees><email>hison@stanfordhealthcare.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Clarke</surname><given-names>Shoa L</given-names></name><degrees>MD, PhD</degrees><email>shoa@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knowles</surname><given-names>Joshua W</given-names></name><degrees>MD, PhD</degrees><email>knowlej@stanford.edu</email></contrib></contrib-group><?date-created 20140102?><?date-updated 20220707?><?date-revised 20250130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyperchol.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperchol.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperchol\" document-type=\"chapter\" object-id=\"hyperchol.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lpl\"><title>Familial Lipoprotein Lipase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Familial LPL Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 19991012?><?date-updated 20170622?><?date-revised 20071001?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lpl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpl\" document-type=\"chapter\" object-id=\"lpl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fmf\"><title>Familial Mediterranean Fever</title><subtitle content-type=\"alt-title\">Synonym: Recurrent Polyserositis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shohat</surname><given-names>Mordechai</given-names></name><degrees>MD</degrees><email>mshohat@post.tau.ac.il</email></contrib></contrib-group><?date-created 20000808?><?date-updated 20161215?><?date-revised 20080225?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fmf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fmf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fmf\" document-type=\"chapter\" object-id=\"fmf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pnknd\"><title>Familial Paroxysmal Nonkinesigenic Dyskinesia</title><subtitle content-type=\"alt-title\">Synonyms: Paroxysmal Dystonic Choreoathetosis, Paroxysmal Nonkinesigenic Dyskinesia, PNKD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Erro</surname><given-names>Roberto</given-names></name><degrees>MD, PhD</degrees><aff>Center for Neurodegenerative Diseases\nDepartment of Medicine, Surgery, and Dentistry \"Scuola Medica Salernitana\"\nUniversity of Salerno\nSalerno, Italy</aff><email>rerro@unisa.it</email></contrib></contrib-group><?date-created 20050624?><?date-updated 20190404?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pnknd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnknd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnknd\" document-type=\"chapter\" object-id=\"pnknd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_porphyria-ct\"><title>Familial Porphyria Cutanea Tarda</title><subtitle content-type=\"alt-title\">Synonyms: Familial PCT (F-PCT); Porphyria Cutanea Tarda, Type II (Type II PCT); <italic toggle=\"yes\">UROD</italic>-Related Porphyria Cutanea Tarda</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rudnick</surname><given-names>Sean</given-names></name><degrees>MD</degrees><email>srudnick@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phillips</surname><given-names>John</given-names></name><degrees>PhD</degrees><email>john.phillips@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bonkovsky</surname><given-names>Herbert</given-names></name><degrees>MD</degrees><email>hbonkovs@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><collab>Porphyrias Consortium of the Rare Diseases Clinical Research Network</collab></contrib></contrib-group><?date-created 20130606?><?date-updated 20220609?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_porphyria-ct.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-ct.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-ct\" document-type=\"chapter\" object-id=\"porphyria-ct.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fa\"><title>Fanconi Anemia</title><subtitle content-type=\"alt-title\">Synonym: Fanconi Pancytopenia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mehta</surname><given-names>Parinda A</given-names></name><degrees>MD</degrees><aff>Professor, Division of Bone Marrow Transplantation and Immune Deficiency<break/>Cincinnati Children's Hospital Medical Center<break/>Cincinnati, Ohio</aff><email>parinda.mehta@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebens</surname><given-names>Christen L</given-names></name><degrees>MD, MPH</degrees><aff>Associate Professor, Division of Blood and Marrow Transplant &#x00026; Cellular Therapy<break/>University of Minnesota<break/>Minneapolis, Minnesota</aff><email>ebens012@umn.edu</email></contrib></contrib-group><?date-created 20020214?><?date-updated 20260115?><?date-revised 20180308?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fa\" document-type=\"chapter\" object-id=\"fa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fars2-def\"><title>FARS2 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>malmannai@kfmc.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Faqeih</surname><given-names>Eissa</given-names></name><degrees>MD</degrees><email>efaqeih@kfmc.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Lee-Jun C</given-names></name><degrees>PhD, FACMG</degrees><email>ljwong@bcm.edu</email></contrib></contrib-group><?date-created 20190314?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fars2-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fars2-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fars2-def\" document-type=\"chapter\" object-id=\"fars2-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fastkd2-coxpd\"><title><italic toggle=\"yes\">FASTKD2</italic>-Related Combined Oxidative Phosphorylation Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Combined Oxidative Phosphorylation (OXPHOS) Deficiency 44 (COXPD44), <italic toggle=\"yes\">FASTKD2</italic>-Related Mitochondrial Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patil</surname><given-names>Siddaramappa J</given-names></name><degrees>MD, DM</degrees><aff>Division of Medical Genetics<break/>Mazumdar Shaw Medical Centre&#x000a0;/ Narayana Hrudayalaya Hospitals<break/>Bangalore, India</aff><email>drsjpatil@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaur</surname><given-names>Namanpreet</given-names></name><degrees>BSc, MSc</degrees><aff>The MRC Protein Phosphorylation and Ubiquitylation Unit<break/>School of Life Sciences<break/>University of Dundee<break/>Dundee, Scotland, United Kingdom</aff><email>namanpreetkaur70@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shukla</surname><given-names>Anju</given-names></name><degrees>MD, DM</degrees><aff>Department of Medical Genetics<break/>Kasturba Medical College;<break/>Manipal Academy of Higher Education<break/>Manipal, India</aff><email>anju.shukla@manipal.edu</email></contrib></contrib-group><?date-created 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fastkd2-coxpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fastkd2-coxpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fastkd2-coxpd\" document-type=\"chapter\" object-id=\"fastkd2-coxpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fahn\"><title>Fatty Acid Hydroxylase-Associated Neurodegeneration</title><subtitle content-type=\"alt-title\">Synonym: Spastic Paraplegia 35 (SPG35)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS</degrees><aff>Department of Molecular and Medical Genetics<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Venkateswaran</surname><given-names>Sunita</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Children's Hospital of Eastern Ontario<break/>Ottawa, Ontario, Canada</aff><email>svenkateswaran@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><aff>Departments of Molecular and Medical Genetics, Pediatrics, and Neurology<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hayflick@ohsu.edu</email></contrib></contrib-group><?date-created 20110628?><?date-updated 20180927?><?date-revised 20120920?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fahn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fahn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fahn\" document-type=\"chapter\" object-id=\"fahn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa\"><title><italic toggle=\"yes\">FBLN5</italic>-Related Cutis Laxa</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Maldergem</surname><given-names>Lionel</given-names></name><degrees>MD, PhD</degrees><aff>Centre de G&#x000e9;n&#x000e9;tique Humaine<break/>Centre Hospitalier Universitaire<break/>Universit&#x000e9; de Franche-Comt&#x000e9;<break/>Besan&#x000e7;on, France</aff><email>vmald@skypro.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Loeys</surname><given-names>Bart</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Antwerp University Hospital<break/>Edegem, Belgium</aff><email>bart.loeys@uantwerpen.be</email></contrib></contrib-group><?date-created 20090319?><?date-updated 20180816?><?date-revised 20230615?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fbln5-cutis-laxa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbln5-cutis-laxa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbln5-cutis-laxa\" document-type=\"chapter\" object-id=\"fbln5-cutis-laxa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_marfan\"><title><italic toggle=\"yes\">FBN1</italic>-Related Marfan Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dietz</surname><given-names>Harry</given-names></name><degrees>MD</degrees><aff>Victor A McKusick Professor, Departments of Genetic Medicine, Pediatrics, Medicine, and Molecular Biology &#x00026; Genetics;<break/>Investigator, Howard Hughes Medical Institute;<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>hdietz@jhmi.edu</email></contrib></contrib-group><?date-created 20010418?><?date-updated 20220217?><?date-revised 20170202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_marfan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_marfan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"marfan\" document-type=\"chapter\" object-id=\"marfan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl\"><title><italic toggle=\"yes\">FBXL4</italic>-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: FBXL4 Deficiency; <italic toggle=\"yes\">FBXL4</italic>-Related Early-Onset Mitochondrial Encephalopathy; Mitochondrial DNA Depletion Syndrome 13 (MTDPS13), Encephalomyopathic Type</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Medical Genetics and Metabolic Consultant, Section of Medical Genetics<break/>King Fahad Medical City<break/>Riyadh, Saudi Arabia</aff><email>malmannai@kfmc.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dai</surname><given-names>Hongzheng</given-names></name><degrees>PhD</degrees><aff>Clinical Molecular Genetics and Genomics Fellow, Department of Molecular &#x00026; Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>hongzheng.dai@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Associate Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Lee-Jun C</given-names></name><degrees>PhD, FACMG</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>ljwong@bcm.edu</email></contrib></contrib-group><?date-created 20170406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fbxl4-mtddepl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fbxl4-mtddepl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fbxl4-mtddepl\" document-type=\"chapter\" object-id=\"fbxl4-mtddepl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_feingold\"><title>Feingold Syndrome 1</title><subtitle content-type=\"alt-title\">Synonyms: Oculodigitoesophagoduodenal Syndrome, ODED Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marcelis</surname><given-names>Carlo LM</given-names></name><degrees>MD</degrees><aff>Department of Human Genetics<break/>Radboud University Nijmegen Medical Center<break/>Nijmegen, The Netherlands</aff><email>carlo.marcelis@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Brouwer</surname><given-names>Arjan PM</given-names></name><degrees>PhD</degrees><aff>Assistant Professor, Department of Human Genetics<break/>Radboud University Nijmegen Medical Center<break/>Nijmegen, The Netherlands</aff><email>arjan.debrouwer@radboudumc.nl</email></contrib></contrib-group><?date-created 20090630?><?date-updated 20190404?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_feingold.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_feingold.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"feingold\" document-type=\"chapter\" object-id=\"feingold.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fgd1-fgd\"><title><italic toggle=\"yes\">FGD1</italic>-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)</title><subtitle content-type=\"alt-title\">Synonyms: Aarskog-Scott Syndrome, Aarskog Syndrome, Faciogenital Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jeanne</surname><given-names>M&#x000e9;d&#x000e9;ric</given-names></name><degrees>MD, PhD</degrees><aff>PRISME Division for Congenital and Developmental Disorders<break/>Department of Genetics<break/>H&#x000f4;pital de l'Estran<break/>Avranches, France</aff><email>m.jeanne@ch-estran.fr</email></contrib></contrib-group><?date-created 20260212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fgd1-fgd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgd1-fgd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgd1-fgd\" document-type=\"chapter\" object-id=\"fgd1-fgd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hartsfield\"><title><italic toggle=\"yes\">FGFR1</italic>-Related Hartsfield Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dhamija</surname><given-names>Radhika</given-names></name><degrees>MD, FAAP</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic<break/>Phoenix, Arizona</aff><email>dhamija.radhika@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Babovic-Vuksanovic</surname><given-names>Dusica</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>dbabovic@mayo.edu</email></contrib></contrib-group><?date-created 20160303?><?date-updated 20211202?><?date-revised 20220512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hartsfield.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hartsfield.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hartsfield\" document-type=\"chapter\" object-id=\"hartsfield.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_craniosynostosis\"><title><italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndromes Overview</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">FGFR</italic> Acrocephalosyndactyly</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wenger</surname><given-names>Tara</given-names></name><degrees>MD, PhD</degrees><email>tara.wenger@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miller</surname><given-names>Danny</given-names></name><degrees>MD, PhD</degrees><email>danny.miller@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evans</surname><given-names>Kelly</given-names></name><degrees>MD</degrees><email>kelly.evans@seattlechildrens.org</email></contrib></contrib-group><?date-created 19981020?><?date-updated 20200416?><?date-revised 20200430?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_craniosynostosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Clinical_Characteristic\"><title> Clinical Characteristics of <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Causes_of_FGFR_Craniosy\"><title> Causes of <italic toggle=\"yes\">FGFR</italic> Craniosynostosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Causes_of_FGFR_Craniosy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Evaluation_Strategies_t\"><title> Evaluation Strategies to Identify the Genetic Cause of an <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Evaluation_Strategies_t\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Management_of_Individua\"><title> Management of Individuals with an <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Management_of_Individua\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_craniosynostosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"craniosynostosis\" document-type=\"chapter\" object-id=\"craniosynostosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hlrcc\"><title><italic toggle=\"yes\">FH</italic> Tumor Predisposition Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Fumarate Hydratase Tumor Predisposition Syndrome (FHTPS), Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Multiple Cutaneous and Uterine Leiomyomatosis (MCL/MCUL), Reed's Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kamihara</surname><given-names>Junne</given-names></name><degrees>MD, PhD</degrees><aff>Dana-Farber Cancer Institute;<break/>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>junne_kamihara@dfci.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schultz</surname><given-names>Kris Ann</given-names></name><degrees>MD</degrees><aff>Children's Minnesota<break/>Minneapolis, Minnesota</aff><email>krisann.schultz@childrensmn.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rana</surname><given-names>Huma Q</given-names></name><degrees>MD, MPH</degrees><aff>Dana-Farber Cancer Institute<break/>Boston, Massachusetts</aff><email>humaq_rana@dfci.harvard.edu</email></contrib></contrib-group><?date-created 20060731?><?date-updated 20250508?><?date-revised 20200813?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hlrcc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hlrcc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hlrcc\" document-type=\"chapter\" object-id=\"hlrcc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fop\"><title>Fibrodysplasia Ossificans Progressiva</title><subtitle content-type=\"alt-title\">Synonyms: Myositis Ossificans Progressiva, Progressive Ossifying Myositis, <italic toggle=\"yes\">ACVR1</italic>-Related Fibrodysplasia Ossificans Progressiva</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Akesson</surname><given-names>Lauren S</given-names></name><degrees>MBBS (Hons), PhD, FRACP, FRCPA</degrees><aff>University of Tasmania<break/>Hobart, Tasmania, Australia</aff><email>lauren.akesson@utas.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><aff>Victorian Clinical Genetics Services;<break/>Murdoch Children's Research Institute;<break/>University of Melbourne<break/>Parkville, Victoria, Australia</aff><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20200611?><?date-revised 20240523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fop.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fop.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fop\" document-type=\"chapter\" object-id=\"fop.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mccune-albright\"><title>Fibrous Dysplasia&#x000a0;/ McCune-Albright Syndrome</title><subtitle content-type=\"alt-title\">Synonym: FD/MAS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Szymczuk</surname><given-names>Vivian</given-names></name><degrees>MD</degrees><email>vivian.szymczuk@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Florenzano</surname><given-names>Pablo</given-names></name><degrees>MD</degrees><email>pablo.florenzano@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Castro</surname><given-names>Luis F</given-names></name><degrees>PhD</degrees><email>luis.fernandezdecastrodiaz@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Collins</surname><given-names>Michael T</given-names></name><degrees>MD</degrees><email>mcollins@dir.nidcr.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boyce</surname><given-names>Alison M</given-names></name><degrees>MD</degrees><email>boyceam@mail.nih.gov</email></contrib></contrib-group><?date-created 20150226?><?date-updated 20240208?><?date-revised 20190627?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mccune-albright.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mccune-albright.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mccune-albright\" document-type=\"chapter\" object-id=\"mccune-albright.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fkbp14-keds\"><title><italic toggle=\"yes\">FKBP14</italic> Kyphoscoliotic Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonym: kEDS-<italic toggle=\"yes\">FKBP14</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Giunta</surname><given-names>Cecilia</given-names></name><degrees>PhD</degrees><email>cecilia.giunta@kispi.uzh.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rohrbach</surname><given-names>Marianne</given-names></name><degrees>MD, PhD</degrees><email>marianne.rohrbach@kispi.uzh.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fauth</surname><given-names>Christine</given-names></name><degrees>MD</degrees><email>christine.fauth@i-med.ac.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baumann</surname><given-names>Matthias</given-names></name><degrees>MD</degrees><email>matthias.baumann@tirol-kliniken.at</email></contrib></contrib-group><?date-created 20190523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fkbp14-keds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fkbp14-keds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fkbp14-keds\" document-type=\"chapter\" object-id=\"fkbp14-keds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-pvh\"><title>FLNA Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Ming Hui</given-names></name><degrees>MD, MMSc</degrees><aff>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>minghui.chen@cardio.chboston.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Walsh</surname><given-names>Christopher A</given-names></name><degrees>MD, PhD</degrees><aff>Boston Children's Hospital<break/>Howard Hughes Medical Institute<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>christopher.walsh@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20021008?><?date-updated 20210930?><?date-revised 20090604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-pvh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-pvh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-pvh\" document-type=\"chapter\" object-id=\"x-pvh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_opd\"><title><italic toggle=\"yes\">FLNA</italic>-Related Otopalatodigital Spectrum Disorders</title><subtitle content-type=\"alt-title\">Synonyms: Otopalatodigital Spectrum Disorders (OPDSD); X-Linked Otopalatodigital Spectrum Disorders</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Robertson</surname><given-names>Stephen</given-names></name><degrees>FRACP, DPhil</degrees><aff>Department of Paediatrics and Child Health<break/>Dunedin School of Medicine<break/>University of Otago<break/>Dunedin, New Zealand</aff><email>stephen.robertson@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wade</surname><given-names>Emma</given-names></name><degrees>PhD</degrees><aff>Department of Obstetrics, Gynaecology and Women's Health<break/>Dunedin School of Medicine<break/>University of Otago<break/>Dunedin, New Zealand</aff><email>emma.wade@otago.ac.nz</email></contrib></contrib-group><?date-created 20051130?><?date-updated 20250626?><?date-revised 20090428?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_opd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opd\" document-type=\"chapter\" object-id=\"opd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_flnb-dis\"><title><italic toggle=\"yes\">FLNB-</italic>Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Robertson</surname><given-names>Stephen</given-names></name><degrees>FRACP, DPhil</degrees><aff>Professor of Paediatric Genetics<break/>Department of Paediatrics and Child Health<break/>Dunedin School of Medicine<break/>University of Otago<break/>Dunedin, New Zealand</aff><email>stephen.robertson@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meira</surname><given-names>Joanna</given-names></name><degrees>MD, MSc</degrees><aff>Professor, State University of Bahia (UNEB)<break/>Salvador, Bahia, Brazil</aff><email>joannagcm@gmail.com</email></contrib></contrib-group><?date-created 20081009?><?date-updated 20250911?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_flnb-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_flnb-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"flnb-dis\" document-type=\"chapter\" object-id=\"flnb-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fragilex\"><title><italic toggle=\"yes\">FMR1</italic> Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunter</surname><given-names>Jessica Ezzell</given-names></name><degrees>PhD</degrees><aff>Center for Health Research<break/>Kaiser Permanente Northwest<break/>Portland, Oregon</aff><email>jessica.e.hunter@kpchr.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berry-Kravis</surname><given-names>Elizabeth</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Pediatrics, Neurological Sciences, and Biochemistry<break/>Rush University Medical Center<break/>Chicago, Illinois</aff><email>elizabeth_berry-kravis@rush.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hipp</surname><given-names>Heather</given-names></name><degrees>MD</degrees><aff>Division of Reproductive Endocrinology and Infertility<break/>Emory University School of Medicine<break/>Atlanta, Georgia</aff><email>hhipp@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Todd</surname><given-names>Peter K</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>petertod@med.umich.edu</email></contrib></contrib-group><?date-created 19980616?><?date-updated 20191121?><?date-revised 20240516?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fragilex.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fragilex.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fragilex\" document-type=\"chapter\" object-id=\"fragilex.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_folr1-cft-def\"><title><italic toggle=\"yes\">FOLR1</italic>-Related Cerebral Folate Transport Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Folate Receptor-Alpha Deficiency, FOLR1 Deficiency, FOLR&#x003b1; Deficiency, FR&#x003b1; Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldman</surname><given-names>I David</given-names></name><degrees>MD</degrees><aff>Departments of Medicine and Molecular Pharmacology<break/>Albert Einstein College of Medicine<break/>Bronx, New York</aff><email>i.david.goldman@einsteinmed.edu</email></contrib></contrib-group><?date-created 20240111?><?date-revised 20251218?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_folr1-cft-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folr1-cft-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folr1-cft-def\" document-type=\"chapter\" object-id=\"folr1-cft-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_foxg1-ndd\"><title><italic toggle=\"yes\">FOXG1</italic> Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">FOXG1</italic>-Related Disorder, <italic toggle=\"yes\">FOXG1</italic>-Related Encephalopathy, <italic toggle=\"yes\">FOXG1</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brockmann</surname><given-names>Knut</given-names></name><degrees>MD</degrees><aff>Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders<break/>Children's Hospital,<break/>University Medical Center<break/>G&#x000f6;ttingen, Germany</aff><email>knut.brockmann@med.uni-goettingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Staudt</surname><given-names>Martin</given-names></name><degrees>MD</degrees><aff>Center for Pediatric Palliative Care<break/>Dr von Hauner Children's Hospital<break/>University Hospital<break/>LMU Munich<break/>Munich, Germany</aff><email>martin.staudt@med.uni-muenchen.de</email></contrib></contrib-group><?date-created 20240606?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_foxg1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxg1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxg1-ndd\" document-type=\"chapter\" object-id=\"foxg1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_foxp1\"><title>FOXP1 Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: FOXP1 Haploinsufficiency, <italic toggle=\"yes\">FOXP1</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rappold</surname><given-names>Gudrun</given-names></name><degrees>PhD</degrees><email>gudrun.rappold@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Siper</surname><given-names>Paige</given-names></name><degrees>PhD</degrees><email>paige.siper@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kostic</surname><given-names>Ana</given-names></name><degrees>PhD</degrees><email>ana.kostic@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Braden</surname><given-names>Ruth</given-names></name><degrees>PhD</degrees><email>braden.r@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela</given-names></name><degrees>PhD</degrees><email>angela.morgan@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koene</surname><given-names>Saskia</given-names></name><degrees>MD, PhD</degrees><email>s.koene@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kolevzon</surname><given-names>Alexander</given-names></name><degrees>MD</degrees><email>alexander.kolevzon@mssm.edu</email></contrib></contrib-group><?date-created 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_foxp1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp1\" document-type=\"chapter\" object-id=\"foxp1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_foxp2-sl-dis\"><title><italic toggle=\"yes\">FOXP2-</italic>Related Speech and Language Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela</given-names></name><degrees>BSpPath (Aud Hons), PhD</degrees><aff>Head, Speech &#x00026; Language,<break/>Murdoch Children's Research Institute;<break/>Professor, Department of Audiology and Speech Pathology<break/>University of Melbourne;<break/>Director, Genetics of Speech Clinic<break/>Royal Children&#x02019;s Hospital<break/>Melbourne, Victoria, Australia</aff><email>amor@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fisher</surname><given-names>Simon E</given-names></name><degrees>DPhil</degrees><aff>Language and Genetics Department<break/>Max Planck Institute for Psycholinguistics;<break/>Donders Institute for Brain, Cognition and Behaviour<break/>Radboud University<break/>Nijmegen, the Netherlands</aff><email>simon.fisher@mpi.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scheffer</surname><given-names>Ingrid</given-names></name><degrees>MBBS, PhD, FRACP, FAA</degrees><aff>Epilepsy Research Centre<break/>Department of Medicine and Paediatrics<break/>University of Melbourne;<break/>Austin Health<break/>Melbourne, Victoria, Australia</aff><email>i.scheffer@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hildebrand</surname><given-names>Michael</given-names></name><degrees>PhD</degrees><aff>Epilepsy Research Centre<break/>Melbourne Brain Centre<break/>Department of Medicine<break/>University of Melbourne;<break/>Austin Health;<break/>Neuroscience Group<break/>Murdoch Children's Research Institute<break/>Melbourne, Victoria, Australia</aff><email>michael.hildebrand@unimelb.edu.au</email></contrib></contrib-group><?date-created 20160623?><?date-updated 20230126?><?date-revised 20170202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_foxp2-sl-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_foxp2-sl-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"foxp2-sl-dis\" document-type=\"chapter\" object-id=\"foxp2-sl-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_issd\"><title>Free Sialic Acid Storage Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adams</surname><given-names>David</given-names></name><degrees>MD, PhD</degrees><email>dadams1@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huizing</surname><given-names>Marjan</given-names></name><degrees>PhD</degrees><email>mhuizing@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wasserstein</surname><given-names>Melissa</given-names></name><degrees>MD</degrees><email>mwassers@montefiore.org</email></contrib></contrib-group><?date-created 20030613?><?date-updated 20250626?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_issd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_issd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"issd\" document-type=\"chapter\" object-id=\"issd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mota\"><title><italic toggle=\"yes\">FREM1</italic> Autosomal Recessive Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Li</surname><given-names>Chumei</given-names></name><degrees>MD, PhD, FRCPC, FCCMG</degrees><aff>McMaster Children's Hospital<break/>Department of Pediatrics<break/>McMaster University<break/>Hamilton, Ontario, Canada</aff><email>lichum@mcmaster.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Slavotinek</surname><given-names>Anne</given-names></name><degrees>MBBS, PhD</degrees><aff>Department of Pediatrics<break/>Division of Genetics<break/>University of California, San Francisco<break/>San Francisco, California</aff><email>anne.slavotinek@cchmc.org</email></contrib></contrib-group><?date-created 20080709?><?date-updated 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mota.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mota.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mota\" document-type=\"chapter\" object-id=\"mota.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_friedreich\"><title>Friedreich Ataxia</title><subtitle content-type=\"alt-title\">Synonym: FRDA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bidichandani</surname><given-names>Sanjay I</given-names></name><degrees>MBBS, PhD</degrees><aff>Professor of Pediatrics, University of Oklahoma Health Sciences Center<break/>Oklahoma City, Oklahoma</aff><email>sanjay-bidichandani@ouhsc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Delatycki</surname><given-names>Martin B</given-names></name><degrees>MBBS, FRACP, PhD</degrees><aff>Professor and Clinical Geneticist, Victorian Clinical Genetics Services;<break/>Co-Director, Bruce Lefroy Centre for Genetic Health Research<break/>Murdoch Children's Research Institute<break/>Victoria, Australia</aff><email>martin.delatycki@vcgs.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Napierala</surname><given-names>Marek</given-names></name><degrees>PhD, DSc</degrees><aff>Professor of Neurology, University of Texas Southwestern Medical Center;<break/>O&#x02019;Donnell Brain Institute<break/>Dallas, Texas</aff><email>marek.napierala@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duquette</surname><given-names>Antoine</given-names></name><degrees>MD, MSc, FRCP(C)</degrees><aff>Associate Clinical Professor, Department of Neurosciences<break/>Centre hospitalier de l'Universit&#x000e9; de Montr&#x000e9;al<break/>Montr&#x000e9;al, Canada</aff><email>antoine.duquette@umontreal.ca</email></contrib></contrib-group><?date-created 19981218?><?date-updated 20241031?><?date-revised 20250626?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_friedreich.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_friedreich.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"friedreich\" document-type=\"chapter\" object-id=\"friedreich.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xl-nystag\"><title><italic toggle=\"yes\">FRMD7</italic>-Related Infantile Nystagmus</title><subtitle content-type=\"alt-title\">Synonyms: NYS1, X-Linked Idiopathic Infantile Nystagmus</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thomas</surname><given-names>Mervyn G</given-names></name><degrees>BSc (Hons), MB ChB, PhD</degrees><email>mt350@le.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Maconachie</surname><given-names>Gail</given-names></name><degrees>BSc, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hisaund</surname><given-names>Michael</given-names></name><degrees>BSc</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gottlob</surname><given-names>Irene</given-names></name><degrees>MD, Univ Doz, FRCOphth</degrees><email>ig15@le.ac.uk</email></contrib></contrib-group><?date-created 20090212?><?date-updated 20180816?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xl-nystag.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xl-nystag.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xl-nystag\" document-type=\"chapter\" object-id=\"xl-nystag.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fructose1-6-def\"><title>Fructose-1,6-Bisphosphatase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: FBP1 Deficiency; FBPase Deficiency; Fructose 1,6 Diphosphatase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bijarnia-Mahay</surname><given-names>Sunita</given-names></name><degrees>MBBS, DCH, DNB</degrees><email>bijarnia@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhatia</surname><given-names>Sameer</given-names></name><degrees>MBBS, MD</degrees><email>drsameerbhatia@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arora</surname><given-names>Veronica</given-names></name><degrees>MBBS, MS, DNB (OBG)</degrees><email>veronicaarora@gmail.com</email></contrib></contrib-group><?date-created 20191205?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fructose1-6-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fructose1-6-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fructose1-6-def\" document-type=\"chapter\" object-id=\"fructose1-6-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fryns\"><title>Fryns Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Slavotinek</surname><given-names>Anne</given-names></name><degrees>MBBS, PhD</degrees><aff>Professor of Human Genetics<break/>Division of Human Genetics<break/>Department of Pediatrics<break/>Cincinnati Children's Hospital Medical Center</aff><email>anne.slavotinek@cchmc.org</email></contrib></contrib-group><?date-created 20070418?><?date-updated 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fryns.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fryns.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fryns\" document-type=\"chapter\" object-id=\"fryns.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fucosidosis\"><title>Fucosidosis</title><subtitle content-type=\"alt-title\">Synonyms: &#x00391;-L-Fucosidase Deficiency, Alpha-L-Fucosidase Deficiency, Mucopolysaccharidosis Type F</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stepien</surname><given-names>Karolina M</given-names></name><degrees>MD, PhD</degrees><email>karolina.stepien@nca.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jones</surname><given-names>Simon</given-names></name><degrees>MD</degrees><email>simon.jones@mft.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Raymond</given-names></name><degrees>MD</degrees><email>rawang@choc.org</email></contrib></contrib-group><?date-created 20260402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fucosidosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fucosidosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fucosidosis\" document-type=\"chapter\" object-id=\"fucosidosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fcmd\"><title>Fukuyama Congenital Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonym: FCMD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saito</surname><given-names>Kayoko</given-names></name><degrees>MD, PhD</degrees><aff>Emeritus Professor, Tokyo Women's Medical University<break/>Tokyo, Japan</aff><email>saito.kayoko@twmu.ac.jp</email></contrib></contrib-group><?date-created 20060126?><?date-updated 20250508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fcmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fcmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fcmd\" document-type=\"chapter\" object-id=\"fcmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fum\"><title>Fumarate Hydratase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Fumarase Deficiency (FMRD), Fumaric Aciduria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coman</surname><given-names>David</given-names></name><degrees>MBBS, MPhil, FRAC</degrees><aff>Professor, Department of Metabolic Medicine<break/>Queensland Children's Hospital<break/>Brisbane, Australia</aff><email>david.coman@health.qld.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kranc</surname><given-names>Kamil R</given-names></name><degrees>MD, DPhil</degrees><aff>Laboratory of Haematopoietic Stem Cell &#x00026; Leukaemia Biology<break/>Centre for Haemato-Oncology<break/>Barts Cancer Institute<break/>Queen Mary University of London<break/>London, United Kingdom</aff><email>kamil.kranc@qmul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christodoulou</surname><given-names>John</given-names></name><degrees>MBBS, PhD</degrees><aff>Director, Genetics Research<break/>Murdoch Children's Research Institute;<break/>Chair of Genomic Medicine, Department of Paediatrics<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>john.christodoulou@mcri.edu.au</email></contrib></contrib-group><?date-created 20060705?><?date-updated 20260609?><?date-revised 20060810?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fum.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fum.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fum\" document-type=\"chapter\" object-id=\"fum.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-G?><toc-entry id=\"toc_g6pc3-def\"><title>G6PC3 Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Ubiquitous Glucose-6-Phosphatase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Banka</surname><given-names>Siddharth</given-names></name><degrees>MD, MRCPCH, PhD</degrees><aff>Manchester Centre for Genomic Medicine - Institute of Human Development<break/>Faculty of Medical and Human Sciences<break/>University of Manchester;<break/>Manchester Centre for Genomic Medicine - Saint Mary's Hospital<break/>Central Manchester University Hospitals NHS Foundation Trust;<break/>Manchester Academic Health Science Centre<break/>Manchester, United Kingdom</aff><email>siddharth.banka@manchester.ac.uk</email></contrib></contrib-group><?date-created 20150416?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_g6pc3-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_g6pc3-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"g6pc3-def\" document-type=\"chapter\" object-id=\"g6pc3-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fgf14-ataxia\"><title>GAA-<italic toggle=\"yes\">FGF14</italic>-Related Ataxia</title><subtitle content-type=\"alt-title\">Synonyms: Spinocerebellar Ataxia 27B (SCA27B), <italic toggle=\"yes\">FGF14</italic> (GAA)<sub>n</sub>-Mediated Ataxia, GAA-<italic toggle=\"yes\">FGF14</italic> Ataxia, GAA-<italic toggle=\"yes\">FGF14</italic> Disease, GAA-<italic toggle=\"yes\">FGF14</italic>-Related Disease, SCA27B/ATX-<italic toggle=\"yes\">FGF14</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pellerin</surname><given-names>David</given-names></name><degrees>MD, MSc, FRCPC</degrees><email>david.pellerin.21@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Danzi</surname><given-names>Matt</given-names></name><degrees>PhD</degrees><email>m.danzi@med.miami.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Renaud</surname><given-names>Mathilde</given-names></name><degrees>MD, PhD</degrees><email>m.renaud2@chru-nancy.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Synofzik</surname><given-names>Matthis</given-names></name><degrees>MD</degrees><email>matthis.synofzik@uni-tuebingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zuchner</surname><given-names>Stephan</given-names></name><degrees>MD, PhD</degrees><email>szuchner@med.miami.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brais</surname><given-names>Bernard</given-names></name><degrees>MDCM, MPhil, PhD, FRCPC</degrees><email>bernard.brais@mcgill.ca</email></contrib></contrib-group><?date-created 20240125?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fgf14-ataxia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fgf14-ataxia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fgf14-ataxia\" document-type=\"chapter\" object-id=\"fgf14-ataxia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gabriele-devries\"><title>Gabriele-de Vries Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">YY1</italic> Intellectual Disability Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nabais S&#x000e1;</surname><given-names>Maria J</given-names></name><degrees>MD, MPH, PhD</degrees><email>maria.nabaissa@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gabriele</surname><given-names>Michele</given-names></name><degrees>MS, PhD</degrees><email>michele.gabriele@ieo.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Testa</surname><given-names>Giuseppe</given-names></name><degrees>MD, PhD, MA</degrees><email>giuseppe.testa@unimi.it</email><email>giuseppe.testa@ieo.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib></contrib-group><?date-created 20190530?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gabriele-devries.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gabriele-devries.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gabriele-devries\" document-type=\"chapter\" object-id=\"gabriele-devries.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gan\"><title><italic toggle=\"yes\">GAN</italic>-Related Neurodegeneration</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Opal</surname><given-names>Puneet</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Northwestern University<break/>Feinberg School of Medicine<break/>Chicago, Illinois</aff><email>p-opal@northwestern.edu</email></contrib></contrib-group><?date-created 20030109?><?date-updated 20211014?><?date-revised 20090811?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gan\" document-type=\"chapter\" object-id=\"gan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmt2d\"><title><italic toggle=\"yes\">GARS1</italic>-Associated Axonal Neuropathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Markovitz</surname><given-names>Rebecca</given-names></name><degrees>MD, PhD</degrees><email>rebecca.markovitz@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ghosh</surname><given-names>Rajarshi</given-names></name><degrees>PhD</degrees><email>rajarshi.ghosh@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lotze</surname><given-names>Timothy</given-names></name><degrees>MD</degrees><email>tlotze@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Potocki</surname><given-names>Lorraine</given-names></name><degrees>MD</degrees><email>lpotocki@bcm.edu</email></contrib></contrib-group><?date-created 20061108?><?date-updated 20210722?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmt2d.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2d.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2d\" document-type=\"chapter\" object-id=\"cmt2d.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gata1\"><title><italic toggle=\"yes\">GATA1</italic>-Related Cytopenia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Takasaki</surname><given-names><?break?>Kaoru</given-names></name><degrees>MD</degrees><aff>Instructor, Department of Pediatrics<break/>Division of Hematology<break/>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>takasakik@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kacena</surname><given-names>Melissa A</given-names></name><degrees>PhD</degrees><aff>Professor and Vice Chair for Research, Department of Orthopaedic Surgery<break/>Indiana University School of Medicine<break/>Indianapolis, Indiana</aff><email>mkacena@iupui.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raskind</surname><given-names>Wendy H</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Departments of Medicine and Psychiatry and Behavioral Sciences<break/>University of Washington Medical Center<break/>Seattle, Washington</aff><email>wendyrun@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weiss</surname><given-names>Mitchell J</given-names></name><degrees>MD, PhD</degrees><aff>Member and Chairman,<break/>Department of Hematology<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>mitch.weiss@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chou</surname><given-names>Stella T</given-names></name><degrees>MD</degrees><aff>Associate Professor, Department of Pediatrics<break/>University of Pennsylvania School of Medicine;<break/>Division of Hematology<break/>Chief, Division of Transfusion Medicine<break/>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>chous@chop.edu</email></contrib></contrib-group><?date-created 20061122?><?date-updated 20230216?><?date-revised 20070330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gata1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gata1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gata1\" document-type=\"chapter\" object-id=\"gata1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gaucher\"><title>Gaucher Disease</title><subtitle content-type=\"alt-title\">Synonyms: Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hughes</surname><given-names>Derralynn A</given-names></name><degrees>MA, DPhil, FRCP, FRCPath</degrees><aff>Professor of Experimental Haematology<break/>Department of Academic Haematology<break/>University College Medical School<break/>London, United Kingdom</aff><email>derralynnhughes@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pastores</surname><given-names>Gregory M</given-names></name><degrees>MD</degrees><aff>Clinical Professor, Medicine (Genetics)<break/>University College<break/>Dublin, Ireland</aff></contrib></contrib-group><?date-created 20000727?><?date-updated 20231207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gaucher.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaucher.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaucher\" document-type=\"chapter\" object-id=\"gaucher.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_apbd\"><title><italic toggle=\"yes\">GBE1</italic> Adult Polyglucosan Body Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Akman</surname><given-names>H Orhan</given-names></name><degrees>PhD</degrees><email>hoa2101@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lossos</surname><given-names>Alexander</given-names></name><degrees>MD</degrees><email>alos@hadassah.org.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kakhlon</surname><given-names>Or</given-names></name><degrees>PhD</degrees><email>ork@hadassah.org.il</email></contrib></contrib-group><?date-created 20090402?><?date-updated 20200917?><?date-revised 20090723?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_apbd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_apbd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"apbd\" document-type=\"chapter\" object-id=\"apbd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_geleophys-dysp\"><title>Geleophysic Dysplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marzin</surname><given-names>Pauline</given-names></name><degrees>MD</degrees><email>pauline.marzin@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cormier-Daire</surname><given-names>Val&#x000e9;rie</given-names></name><degrees>MD, PhD</degrees><email>valerie.cormier-daire@inserm.fr</email></contrib></contrib-group><?date-created 20090922?><?date-updated 20240328?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_geleophys-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_geleophys-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"geleophys-dysp\" document-type=\"chapter\" object-id=\"geleophys-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gaci\"><title>Generalized Arterial Calcification of Infancy</title><subtitle content-type=\"alt-title\">Synonyms: GACI, Idiopathic Infantile Arterial Calcification (IIAC)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ziegler</surname><given-names>Shira G</given-names></name><degrees>MD, PhD</degrees><email>sgziegler@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos R</given-names></name><degrees>MD</degrees><email>ferreiracr@mail.nih.gov</email></contrib></contrib-group><?date-created 20141113?><?date-updated 20260519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gaci.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gaci.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gaci\" document-type=\"chapter\" object-id=\"gaci.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_husa\"><title>Genetic Atypical Hemolytic-Uremic Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Familial Atypical Hemolytic-Uremic Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Noris</surname><given-names>Marina</given-names></name><degrees>PhD</degrees><email>marina.noris@marionegri.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bresin</surname><given-names>Elena</given-names></name><degrees>MD</degrees><email>elena.bresin@marionegri.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mele</surname><given-names>Caterina</given-names></name><degrees>Biol Sci D</degrees><email>caterina.mele@marionegri.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Remuzzi</surname><given-names>Giuseppe</given-names></name><degrees>MD</degrees><email>giuseppe.remuzzi@marionegri.it</email></contrib></contrib-group><?date-created 20071116?><?date-updated 20210923?><?date-revised 20081120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_husa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_husa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"husa\" document-type=\"chapter\" object-id=\"husa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_deafness-overview\"><title>Genetic Hearing Loss Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shearer</surname><given-names>A Eliot</given-names></name><degrees>MD, PhD</degrees><email>eliot.shearer@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hildebrand</surname><given-names>Michael S</given-names></name><degrees>PhD</degrees><email>michael.hildebrand@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Odell</surname><given-names>Amanda M</given-names></name><degrees>MS, LGC</degrees><email>amanda-odell@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><email>richard-smith@uiowa.edu</email></contrib></contrib-group><?date-created 19990214?><?date-updated 20230406?><?date-revised 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_deafness-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Audiometric_and_Clinic\"><title> Audiometric and Clinical Aspects of Hearing Loss</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Audiometric_and_Clinic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Causes_of_Genetic_Hear\"><title> Causes of Genetic Hearing Loss</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Causes_of_Genetic_Hear\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Differential_Diagnosis\"><title> Differential Diagnosis of Genetic Hearing Loss</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Evaluation_Strategy\"><title> Evaluation Strategy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Evaluation_Strategy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_deafness-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"deafness-overview\" document-type=\"chapter\" object-id=\"deafness-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prion\"><title>Genetic Prion Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zerr</surname><given-names>Inga</given-names></name><degrees>MD</degrees><email>ingazerr@med.uni-goettingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schmitz</surname><given-names>Matthias</given-names></name><degrees>MD</degrees><email>matthias.schmitz@med.uni-goettingen.de</email></contrib></contrib-group><?date-created 20030327?><?date-updated 20210107?><?date-revised 20100907?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prion.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prion.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prion\" document-type=\"chapter\" object-id=\"prion.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_srns-ov\"><title>Genetic Steroid-Resistant Nephrotic Syndrome Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lipska-Zi&#x00119;tkiewicz</surname><given-names>Beata S</given-names></name><degrees>MD, PhD</degrees><aff>Center for Rare Diseases;<break/>Department of Biology and Medical Genetics<break/>Clinical Genetics Unit<break/>Medical University of Gda&#x00144;sk<break/>Gda&#x00144;sk, Poland</aff><email>b.lipska@gumed.edu.pl</email></contrib></contrib-group><?date-created 20210826?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_srns-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Clinical_Characteristics_of_Gene\"><title> Clinical Characteristics of Genetic Steroid-Resistant Nephrotic Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Clinical_Characteristics_of_Gene\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Causes_of_Genetic_SteroidResista\"><title> Causes of Genetic Steroid-Resistant Nephrotic Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Causes_of_Genetic_SteroidResista\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Evaluation_Strategies_to_Identif\"><title> Evaluation Strategies to Identify the Cause of Genetic Steroid-Resistant Nephrotic Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Evaluation_Strategies_to_Identif\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Phenocopies_of_Genetic_SteroidRe\"><title> Phenocopies of Genetic Steroid-Resistant Nephrotic Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Phenocopies_of_Genetic_SteroidRe\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Management_of_Genetic_SteroidRes\"><title> Management of Genetic Steroid-Resistant Nephrotic Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Management_of_Genetic_SteroidRes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Risk_Assessment_and_Surveillance\"><title> Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Genetic Steroid-Resistant Nephrotic Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Risk_Assessment_and_Surveillance\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_srns-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"srns-ov\" document-type=\"chapter\" object-id=\"srns-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmtx\"><title><italic toggle=\"yes\">GJB1</italic> Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abrams</surname><given-names>Charles K</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology and Rehabilitation<break/>University of Illinois at Chicago College of Medicine<break/>Chicago, Illinois</aff><email>cabrams1@uic.edu</email></contrib></contrib-group><?date-created 19980618?><?date-updated 20200220?><?date-revised 20240425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmtx.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtx.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtx\" document-type=\"chapter\" object-id=\"cmtx.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dfnb1\"><title><italic toggle=\"yes\">GJB2</italic>-Related Autosomal Recessive Nonsyndromic Hearing Loss</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><email>richard-smith@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Azaiez</surname><given-names>Hela</given-names></name><degrees>MS, PhD</degrees><email>hela-azaiez@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Booth</surname><given-names>Kevin</given-names></name><degrees>PhD</degrees><email>kevbooth@iu.edu</email></contrib></contrib-group><?date-created 19980928?><?date-updated 20230720?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dfnb1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb1\" document-type=\"chapter\" object-id=\"dfnb1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gm1-ganglio\"><title><italic toggle=\"yes\">GLB1-</italic>Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Regier</surname><given-names>Debra S</given-names></name><degrees>MD, PhD</degrees><aff>Medical Director, Rare Disease Institute<break/>Children's National Hospital<break/>Washington, DC</aff><email>dregier@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tifft</surname><given-names>Cynthia J</given-names></name><degrees>MD, PhD</degrees><aff>Deputy Clinical Director, National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>ctifft@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rothermel</surname><given-names>Caroline E</given-names></name><degrees>BA</degrees><aff>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>caroline.rothermel@nih.gov</email></contrib></contrib-group><?date-created 20131017?><?date-updated 20210422?><?date-revised 20190829?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gm1-ganglio.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm1-ganglio.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm1-ganglio\" document-type=\"chapter\" object-id=\"gm1-ganglio.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gcps\"><title><italic toggle=\"yes\">GLI3</italic>-Related Greig Cephalopolysyndactyly Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biesecker</surname><given-names>Leslie G</given-names></name><degrees>MD</degrees><email>lesb@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johnston</surname><given-names>Jennifer J</given-names></name><degrees>PhD</degrees><email>jjohnsto@mail.nih.gov</email></contrib></contrib-group><?date-created 20010709?><?date-updated 20250828?><?date-revised 20240215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gcps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gcps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gcps\" document-type=\"chapter\" object-id=\"gcps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_phs\"><title><italic toggle=\"yes\">GLI3</italic>-Related Pallister-Hall Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biesecker</surname><given-names>Leslie G</given-names></name><degrees>MD</degrees><aff>Center for Precision Health Research<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>lesb@mail.nih.gov</email></contrib></contrib-group><?date-created 20000525?><?date-updated 20220818?><?date-revised 20240222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_phs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phs\" document-type=\"chapter\" object-id=\"phs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_glut1\"><title>Glucose Transporter Type 1 Deficiency Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: De Vivo Disease, Glut1 Deficiency Syndrome, Glut1DS, Glut1-DS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Dong</given-names></name><degrees>MD</degrees><email>dwang666888@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sands</surname><given-names>Tristan</given-names></name><degrees>MD, PhD</degrees><email>tts27@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tang</surname><given-names>Maoxue</given-names></name><degrees>PhD</degrees><email>mt2877@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Monani</surname><given-names>Umrao</given-names></name><degrees>PhD</degrees><email>um2105@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Vivo</surname><given-names>Darryl</given-names></name><degrees>MD</degrees><email>dcd1@cumc.columbia.edu</email></contrib></contrib-group><?date-created 20020730?><?date-updated 20250306?><?date-revised 20080909?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_glut1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glut1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glut1\" document-type=\"chapter\" object-id=\"glut1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_glutaric-a1\"><title>Glutaric Acidemia Type 1</title><subtitle content-type=\"alt-title\">Synonyms: GA-1, GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Larson</surname><given-names>Austin</given-names></name><degrees>MD</degrees><email>austin.larson@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coughlin</surname><given-names><?break?>Curtis</given-names><suffix>II</suffix></name><degrees>PhD, MS</degrees><email>curtis.coughlin@childrenscolorado.org</email></contrib></contrib-group><?date-created 20190919?><?date-updated 20260604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_glutaric-a1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_glutaric-a1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glutaric-a1\" document-type=\"chapter\" object-id=\"glutaric-a1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd1\"><title>Glycogen Storage Disease Type I</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bali</surname><given-names>Deeksha S</given-names></name><degrees>PhD</degrees><email>dbali@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Gharbawy</surname><given-names>Areeg</given-names></name><degrees>MD</degrees><email>areeg.el-gharbawy@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Austin</surname><given-names>Stephanie</given-names></name><degrees>MS, MA, CGC</degrees><email>saustin@amicusrx.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pendyal</surname><given-names>Surekha</given-names></name><degrees>MSc, MEd, RD, FAND</degrees><email>surekha.pendyal@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kishnani</surname><given-names>Priya S</given-names></name><degrees>MD</degrees><email>priya.kishnani@duke.edu</email></contrib></contrib-group><?date-created 20060419?><?date-updated 20211014?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd1\" document-type=\"chapter\" object-id=\"gsd1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd3\"><title>Glycogen Storage Disease Type III</title><subtitle content-type=\"alt-title\">Synonyms: Cori Disease, Debrancher Deficiency, Forbes Disease, Glycogen Debranching Enzyme (GDE) Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schreuder</surname><given-names>Andrea B</given-names></name><degrees>MD, PhD</degrees><email>a.b.schreuder@umcg.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rossi</surname><given-names>Alessandro</given-names></name><degrees>MD</degrees><email>alessandro.rossi@unina.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gr&#x000fc;nert</surname><given-names>Sarah C</given-names></name><degrees>MD</degrees><email>sarah.gruenert@uniklinik-freiburg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Derks</surname><given-names>Terry GJ</given-names></name><degrees>MD, PhD</degrees><email>t.g.j.derks@umcg.nl</email></contrib></contrib-group><?date-created 20100309?><?date-updated 20220106?><?date-revised 20110315?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd3\" document-type=\"chapter\" object-id=\"gsd3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd4\"><title>Glycogen Storage Disease Type IV</title><subtitle content-type=\"alt-title\">Synonyms: Andersen Disease, Glycogen Branching Enzyme Deficiency, Glycogen Storage Disease IV, GSD IV</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Magoulas</surname><given-names>Pilar L</given-names></name><degrees>MS, CGC</degrees><aff>Baylor College of Medicine<break/>Texas Children's Hospital<break/>Houston, Texas</aff><email>magoulas@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Associate Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib></contrib-group><?date-created 20130103?><?date-updated 20190801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd4\" document-type=\"chapter\" object-id=\"gsd4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd5\"><title>Glycogen Storage Disease Type V</title><subtitle content-type=\"alt-title\">Synonyms: Glycogenosis Type V, GSDV, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency, Myophosphorylase Deficiency, PYGM Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mart&#x000ed;n</surname><given-names>Miguel A</given-names></name><degrees>PhD</degrees><email>mamcasanueva.imas12@h12o.es</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lucia</surname><given-names>Alejandro</given-names></name><degrees>MD, PhD</degrees><email>alejandro.lucia@universidadeuropea.es</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arenas</surname><given-names>Joaquin</given-names></name><degrees>PhD</degrees><email>joaquin.arenas@salud.madrid.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Andreu</surname><given-names>Antonio L</given-names></name><degrees>MD, PhD</degrees><email>toniandreu.bcn@gmail.com</email></contrib></contrib-group><?date-created 20060419?><?date-updated 20190620?><?date-revised 20060508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd5.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd5.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd5\" document-type=\"chapter\" object-id=\"gsd5.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd6\"><title>Glycogen Storage Disease Type VI</title><subtitle content-type=\"alt-title\">Synonym: GSD VI</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sallago</surname><given-names>Julieta Bonvin</given-names></name><degrees>MD, MS</degrees><email>jbonvinsallago@connecticutchildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weinstein</surname><given-names>David A</given-names></name><degrees>MD, MMSc</degrees><email>weinstein@uchc.edu</email></contrib></contrib-group><?date-created 20090423?><?date-updated 20260305?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd6.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd6.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd6\" document-type=\"chapter\" object-id=\"gsd6.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gm2a-def\"><title>GM2 Activator Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: GM2 Gangliosidosis, AB Variant; Hexosaminidase Activator Deficiency; Tay-Sachs Variant AB</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xiao</surname><given-names>Changrui</given-names></name><degrees>MD</degrees><email>changrx@hs.uci.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toro</surname><given-names>Camilo</given-names></name><degrees>MD</degrees><email>toroc@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tifft</surname><given-names>Cyndi</given-names></name><degrees>MD, PhD</degrees><email>cynthiat@mail.nih.gov</email></contrib></contrib-group><?date-created 20220825?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gm2a-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm2a-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm2a-def\" document-type=\"chapter\" object-id=\"gm2a-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gm3-def\"><title>GM3 Synthase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Amish Infantile Epilepsy Syndrome, Salt and Pepper Developmental Regression Syndrome, ST3GAL5-CDG, ST3GAL5 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cruz</surname><given-names>Vincent</given-names></name><degrees>MD, MS</degrees><email>vcruz@ddcclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xin</surname><given-names>Baozhong</given-names></name><degrees>PhD</degrees><email>bxin@ddcclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Heng</given-names></name><degrees>MD, PhD</degrees><email>wang@ddcclinic.org</email></contrib></contrib-group><?date-created 20230720?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gm3-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gm3-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gm3-def\" document-type=\"chapter\" object-id=\"gm3-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnai1-ndd\"><title><italic toggle=\"yes\">GNAI1</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bonkowski</surname><given-names>Emily</given-names></name><degrees>ScM, CGC</degrees><email>emily.bonkowski@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fathi</surname><given-names>Esmat</given-names></name><degrees>PhD</degrees><email>esmat.fathi@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mefford</surname><given-names>Heather C</given-names></name><degrees>MD, PhD</degrees><email>heather.mefford@stjude.org</email></contrib></contrib-group><?date-created 20240801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnai1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnai1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnai1-ndd\" document-type=\"chapter\" object-id=\"gnai1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnao1-dis\"><title><italic toggle=\"yes\">GNAO1</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">GNAO1</italic>-Associated Disorder, <italic toggle=\"yes\">GNAO1</italic>-Associated Epileptic Encephalopathy and Movement Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Briere</surname><given-names>Lauren</given-names></name><degrees>MS</degrees><email>lbriere@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thiel</surname><given-names>Moritz</given-names></name><degrees>MD</degrees><email>moritz.thiel@uk-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sweetser</surname><given-names>David A</given-names></name><degrees>MD, PhD</degrees><email>dsweetser@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koy</surname><given-names>Anne</given-names></name><degrees>MD</degrees><email>anne.koy@uk-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Axeen</surname><given-names>Erika</given-names></name><degrees>MD</degrees><email>eta2h@virginia.edu</email></contrib></contrib-group><?date-created 20231109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnao1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnao1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnao1-dis\" document-type=\"chapter\" object-id=\"gnao1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnb1-e\"><title><italic toggle=\"yes\">GNB1</italic> Encephalopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Revah-Politi</surname><given-names>Anya</given-names></name><degrees>MS, CGC</degrees><email>ar3594@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sands</surname><given-names>Tristan T</given-names></name><degrees>MD, PhD</degrees><email>tts27@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Colombo</surname><given-names>Sophie</given-names></name><degrees>MS, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldstein</surname><given-names>David B</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anyane-Yeboa</surname><given-names>Kwame</given-names></name><degrees>MD, FACMG</degrees><email>ka8@cumc.columbia.edu</email></contrib></contrib-group><?date-created 20200305?><?date-revised 20210415?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnb1-e.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb1-e.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb1-e\" document-type=\"chapter\" object-id=\"gnb1-e.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gnb5-ndd\"><title><italic toggle=\"yes\">GNB5</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) Syndrome, Language Delay and ADHD / Cognitive Impairment with or without Cardiac Arrhythmia (LADCI)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Poke</surname><given-names>Gemma</given-names></name><degrees>BSc, MBBS</degrees><email>gemma.poke@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sadleir</surname><given-names>Lynette Grant</given-names></name><degrees>MBChB</degrees><email>lynette.sadleir@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Merla</surname><given-names>Giuseppe</given-names></name><email>giuseppe.merla@unina.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Valles-Ib&#x000e1;&#x000f1;ez</surname><given-names>Guillem</given-names></name><degrees>BSc, MSc, PhD</degrees><email>guille.devallesibanez@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Skinner</surname><given-names>Jonathan Robert</given-names></name><degrees>MB ChB, MRCP(UK), FRACP, FHRS, MD</degrees><email>jskinner@adhb.govt.nz</email></contrib></contrib-group><?date-created 20210826?><?date-revised 20210909?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gnb5-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gnb5-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gnb5-ndd\" document-type=\"chapter\" object-id=\"gnb5-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ibm\"><title><italic toggle=\"yes\">GNE</italic> Myopathy</title><subtitle content-type=\"alt-title\">Synonyms: Distal Myopathy with Rimmed Vacuoles (DMRV), Hereditary Inclusion Body Myopathy (HIBM), Inclusion Body Myopathy Type 2 (IBM2), Nonaka Myopathy, Quadriceps-Sparing Myopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carrillo</surname><given-names>Nuria</given-names></name><degrees>MD</degrees><email>carrilln@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Malicdan</surname><given-names>May Christine</given-names></name><degrees>MD, PhD</degrees><email>maychristine.malicdan@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huizing</surname><given-names>Marjan</given-names></name><degrees>PhD</degrees><email>mhuizing@mail.nih.gov</email></contrib></contrib-group><?date-created 20040326?><?date-updated 20200409?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ibm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibm\" document-type=\"chapter\" object-id=\"ibm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ml2\"><title><italic toggle=\"yes\">GNPTAB</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leroy</surname><given-names>Jules G</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cathey</surname><given-names>Sara S</given-names></name><degrees>MD, FACMG</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Friez</surname><given-names>Michael J</given-names></name><degrees>PhD</degrees></contrib></contrib-group><?date-created 20080826?><?date-updated 20190829?><?date-revised 20090707?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ml2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml2\" document-type=\"chapter\" object-id=\"ml2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gria2-ndd\"><title><italic toggle=\"yes\">GRIA2</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Efthymiou</surname><given-names>Stephanie</given-names></name><degrees>MSc, PhD</degrees><email>s.efthymiou@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rumbos Siurana</surname><given-names>Elisa</given-names></name><degrees>MSc</degrees><email>elisa.siurana.17@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salpietro</surname><given-names>Vincenzo</given-names></name><degrees>MD</degrees><email>v.salpietro@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bayat</surname><given-names>Allan</given-names></name><email>abaya@filadelfia.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20240111?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gria2-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gria2-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gria2-ndd\" document-type=\"chapter\" object-id=\"gria2-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_grin1-ndd\"><title><italic toggle=\"yes\">GRIN1</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">GRIN1</italic>-Related Developmental and Epileptic Encephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Platzer</surname><given-names>Konrad</given-names></name><degrees>MD</degrees><email>konrad.platzer@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemke</surname><given-names>Johannes R</given-names></name><degrees>MD</degrees><email>johannes.lemke@medizin.uni-leipzig.de</email></contrib></contrib-group><?date-created 20190620?><?date-revised 20210401?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_grin1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin1-ndd\" document-type=\"chapter\" object-id=\"grin1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_grin2a-dis\"><title><italic toggle=\"yes\">GRIN2A</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Strehlow</surname><given-names>Vincent</given-names></name><degrees>MD</degrees><email>vincent.strehlow@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myers</surname><given-names>Kenneth A</given-names></name><degrees>MD, PhD, FRCPC</degrees><email>sfu.ken1@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela T</given-names></name><degrees>BSpPath(Aud Hons), PhD, CPSP</degrees><email>amor@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scheffer</surname><given-names>Ingrid E</given-names></name><degrees>MBBS, PhD, FRACP, FAA, FAHMS, FRS</degrees><email>i.scheffer@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemke</surname><given-names>Johannes R.</given-names></name><degrees>MD</degrees><email>johannes.lemke@medizin.uni-leipzig.de</email></contrib></contrib-group><?date-created 20160929?><?date-updated 20240704?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_grin2a-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2a-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2a-dis\" document-type=\"chapter\" object-id=\"grin2a-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_grin2b\"><title><italic toggle=\"yes\">GRIN2B</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">GRIN2B</italic> Encephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Platzer</surname><given-names>Konrad</given-names></name><degrees>MD</degrees><email>konrad.platzer@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemke</surname><given-names>Johannes R</given-names></name><degrees>MD</degrees><email>johannes.lemke@medizin.uni-leipzig.de</email></contrib></contrib-group><?date-created 20180531?><?date-revised 20210325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_grin2b.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2b.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2b\" document-type=\"chapter\" object-id=\"grin2b.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_grin2d-dee\"><title><italic toggle=\"yes\">GRIN2D</italic>-Related Developmental and Epileptic Encephalopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Platzer</surname><given-names>Konrad</given-names></name><degrees>MD</degrees><email>konrad.platzer@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krey</surname><given-names>Ilona</given-names></name><degrees>MD</degrees><email>ilona.krey@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemke</surname><given-names>Johannes R</given-names></name><degrees>MD</degrees><email>johannes.lemke@medizin.uni-leipzig.de</email></contrib></contrib-group><?date-created 20220728?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_grin2d-dee.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_grin2d-dee.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"grin2d-dee\" document-type=\"chapter\" object-id=\"grin2d-dee.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ftd-grn\"><title><italic toggle=\"yes\">GRN</italic> Frontotemporal Dementia</title><subtitle content-type=\"alt-title\">Synonym: FTD-GRN</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hsiung</surname><given-names>Ging-Yuek Robin</given-names></name><degrees>MD, MHSc, FRCPC</degrees><aff>Associate Professor, Division of Neurology<break/>Faculty of Medicine<break/>University of British Columbia and Providence Health Care<break/>Vancouver, British Columbia, Canada</aff><email>hsiung@mail.ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Feldman</surname><given-names>Howard H</given-names></name><degrees>MD, CM, FRCPC</degrees><aff>Professor, Division of Neurology<break/>Faculty of Medicine<break/>University of British Columbia<break/>Vancouver, British Columbia, Canada</aff><email>howard.feldman@ubc.ca</email></contrib></contrib-group><?date-created 20070907?><?date-updated 20200206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ftd-grn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftd-grn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftd-grn\" document-type=\"chapter\" object-id=\"ftd-grn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_drd\"><title>GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Segawa Syndrome, DYT5a, Hereditary Progressive Dystonia with Marked Diurnal Fluctuation</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Furukawa</surname><given-names>Yoshiaki</given-names></name><degrees>MD, PhD</degrees><aff>Chairman, Department of Neurology<break/>Vice President, Juntendo Tokyo Koto Geriatric Medical Center<break/>Professor, Department of Neurology<break/>Faculty of Medicine<break/>Juntendo University<break/>Tokyo, Japan</aff><email>furukawa@juntendo.gmc.ac.jp</email></contrib></contrib-group><?date-created 20020221?><?date-updated 20190124?><?date-revised 20120503?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_drd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drd\" document-type=\"chapter\" object-id=\"drd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-H?><toc-entry id=\"toc_jh\"><title><italic toggle=\"yes\">HAMP</italic>- and <italic toggle=\"yes\">HJV</italic>-Related Hemochromatosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mariani</surname><given-names>Raffaella</given-names></name><degrees>MD, PhD</degrees><email>raffaella.mariani@irccs-sangerardo.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bertola</surname><given-names>Francesca</given-names></name><degrees>PhD</degrees><email>francescadaniela.bertola@irccs-sangerardo.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Piperno</surname><given-names>Alberto</given-names></name><degrees>MD</degrees><email>alberto.piperno@unimib.it</email></contrib></contrib-group><?date-created 20050217?><?date-updated 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_jh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jh\" document-type=\"chapter\" object-id=\"jh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hfg\"><title>Hand-Foot-Genital Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: HFGS, HFG Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Innis</surname><given-names>Jeffrey W</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Human Genetics, Pediatrics and Internal MedicineDirector, Division of Pediatric Genetics, Metabolism and Genomic MedicineUniversity of MichiganDirector, Michigan Medical Genetics LaboratoriesAnn Arbor, Michigan</aff><email>innis@umich.edu</email></contrib></contrib-group><?date-created 20060711?><?date-updated 20190808?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hfg.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfg.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfg\" document-type=\"chapter\" object-id=\"hfg.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_haplo-a20\"><title>Haploinsufficiency of A20</title><subtitle content-type=\"alt-title\">Synonym: HA20</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deuitch</surname><given-names>Natalie T</given-names></name><degrees>MS, CGC</degrees><email>natalie.deuitch@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schwartz</surname><given-names>Daniella M</given-names></name><degrees>MD</degrees><email>daniella.schwartz@pitt.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aksentijevich</surname><given-names>Ivona</given-names></name><degrees>MD</degrees><email>aksentii@arb.niams.nih.gov</email></contrib></contrib-group><?date-created 20241219?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_haplo-a20.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_haplo-a20.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"haplo-a20\" document-type=\"chapter\" object-id=\"haplo-a20.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hemo-a\"><title>Hemophilia A</title><subtitle content-type=\"alt-title\">Synonym: Factor VIII Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Konkle</surname><given-names>Barbara A</given-names></name><degrees>MD</degrees><aff>Director, Bleeding Disorders Laboratory<break/>Bloodworks Northwest; Hematologist, Washington Center for Bleeding Disorders;<break/>Professor Emeritus of Medicine<break/>University of Washington<break/>Seattle, Washington</aff><email>konkleb@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nakaya Fletcher</surname><given-names>Shelley</given-names></name><degrees>BS</degrees><aff>Manager, Bleeding Disorders Laboratory<break/>Bloodworks Northwest<break/>Seattle, Washington</aff><email>shelleyn@bloodworksnw.org</email></contrib></contrib-group><?date-created 20000921?><?date-updated 20250807?><?date-revised 20230727?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hemo-a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-a\" document-type=\"chapter\" object-id=\"hemo-a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hemo-b\"><title>Hemophilia B</title><subtitle content-type=\"alt-title\">Synonyms: Christmas Disease, Factor IX Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Konkle</surname><given-names>Barbara A</given-names></name><degrees>MD</degrees><aff>Director, Bleeding Disorders Laboratory<break/>Bloodworks Northwest; Hematologist, Washington Center for Bleeding Disorders;<break/>Professor Emeritus of Medicine<break/>University of Washington<break/>Seattle, Washington</aff><email>konkleb@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nakaya Fletcher</surname><given-names>Shelley</given-names></name><degrees>BS</degrees><aff>Manager, Bleeding Disorders Laboratory<break/>Bloodworks Northwest<break/>Seattle, Washington</aff><email>shelleyn@bloodworksnw.org</email></contrib></contrib-group><?date-created 20001002?><?date-updated 20250807?><?date-revised 20240606?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hemo-b.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.Key_Sections_in_this_GeneReview\"><title>Key Sections in this <italic toggle=\"yes\">GeneReview</italic></title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.Key_Sections_in_this_GeneReview\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemo-b.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemo-b\" document-type=\"chapter\" object-id=\"hemo-b.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vodi\"><title>Hepatic Veno-Occlusive Disease with Immunodeficiency</title><subtitle content-type=\"alt-title\">Synonym: VODI</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Melanie</given-names></name><degrees>MBBS, FRACP, FRCPA, PhD</degrees><aff>Clinical Immunologist and Immunopathologist<break/>The Children's Hospital at Westmead<break/>Sydney, Australia</aff><email>melanie.wong@health.nsw.gov.au</email></contrib></contrib-group><?date-created 20070221?><?date-updated 20250123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vodi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vodi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vodi\" document-type=\"chapter\" object-id=\"vodi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hep\"><title>Hepatoerythropoietic Porphyria</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">UROD</italic>-Related Hepatoerythropoietic Porphyria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rudnick</surname><given-names>Sean</given-names></name><degrees>MD</degrees><email>srudnick@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phillips</surname><given-names>John</given-names></name><degrees>PhD</degrees><email>john.phillips@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bonkovsky</surname><given-names>Herbert</given-names></name><degrees>MD</degrees><email>hbonkovs@wakehealth.edu</email></contrib><contrib contrib-type=\"author\"><collab>Porphyrias Consortium of the Rare Diseases Clinical Research Network</collab></contrib></contrib-group><?date-created 20131031?><?date-updated 20221222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hep.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hep.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hep\" document-type=\"chapter\" object-id=\"hep.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ataxias\"><title>Hereditary Ataxia Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Perlman</surname><given-names>Susan</given-names></name><degrees>MD</degrees><aff>David Geffen School of Medicine<break/>University of California Los Angeles<break/>Los Angeles, California</aff><email>sperlman@mednet.ucla.edu</email></contrib></contrib-group><?date-created 19981028?><?date-updated 20220616?><?date-revised 20250220?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ataxias.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Clinical_Characteristics_of_Prim\"><title> Clinical Characteristics of Primary Hereditary Ataxia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Clinical_Characteristics_of_Prim\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Causes_of_Hereditary_Ataxia\"><title> Causes of Hereditary Ataxia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Causes_of_Hereditary_Ataxia\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Evaluation_Strategies_to_Identif\"><title> Evaluation Strategies to Identify the Genetic Cause of Hereditary Ataxia in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Evaluation_Strategies_to_Identif\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Management_of_Hereditary_Ataxia\"><title> Management of Hereditary Ataxia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Management_of_Hereditary_Ataxia\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Genetic_Counseling_of_Family_Mem\"><title> Genetic Counseling of Family Members of an Individual with Hereditary Ataxia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Genetic_Counseling_of_Family_Mem\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ataxias.Literature_Cited\"><title>Literature Cited</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ataxias\" document-type=\"chapter\" object-id=\"ataxias.Literature_Cited\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hcp\"><title>Hereditary Coproporphyria</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Bruce</given-names></name><degrees>MD</degrees><aff>University of California San Francisco\nSan Francisco, California</aff><email>bruce.wang@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bissell</surname><given-names>D Montgomery</given-names></name><degrees>MD</degrees><aff>University of California San Francisco\nSan Francisco, California</aff><email>montgomery.bissell@ucsf.edu</email></contrib></contrib-group><?date-created 20121213?><?date-updated 20181108?><?date-revised 20220519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hcp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hcp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hcp\" document-type=\"chapter\" object-id=\"hcp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hered-drta\"><title>Hereditary Distal Renal Tubular Acidosis</title><subtitle content-type=\"alt-title\">Synonyms: Classic Renal Tubular Acidosis, Type 1 RTA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alexander</surname><given-names>R Todd</given-names></name><degrees>MD, PhD</degrees><aff>University of Alberta<break/>Edmonton, Canada</aff><email>todd2@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gil-Pe&#x000f1;a</surname><given-names>Helena</given-names></name><degrees>PhD</degrees><aff>Hospital Universitario Central de Asturias;<break/>Instituto de Investigaci&#x000f3;n Sanitaria del Principado de Asturias<break/>Oviedo, Spain</aff><email>helena.gil@sespa.es</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Greenbaum</surname><given-names>Larry A</given-names></name><degrees>MD, PhD</degrees><aff>Emory University;<break/>Children&#x02019;s Healthcare of Atlanta<break/>Atlanta, Georgia</aff><email>lgreen6@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Santos</surname><given-names>Fernando</given-names></name><degrees>MD, PhD</degrees><aff>University of Oviedo;<break/>Hospital Universitario Central de Asturias<break/>Oviedo, Spain</aff><email>fsantos@uniovi.es</email></contrib></contrib-group><?date-created 20191010?><?date-updated 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hered-drta.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hered-drta.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hered-drta\" document-type=\"chapter\" object-id=\"hered-drta.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hfpoik-tmp\"><title>Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis</title><subtitle content-type=\"alt-title\">Synonym: POIKTMP</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mercier</surname><given-names>Sandra</given-names></name><degrees>MD, PhD</degrees><email>sandra.mercier@chu-nantes.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>K&#x000fc;ry</surname><given-names>S&#x000e9;bastien</given-names></name><degrees>DVM, PhD</degrees><email>sebastien.kury@chu-nantes.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barbarot</surname><given-names>S&#x000e9;bastien</given-names></name><degrees>MD, PhD</degrees><email>sebastien.barbarot@chu-nantes.fr</email></contrib></contrib-group><?date-created 20161013?><?date-updated 20210805?><?date-revised 20210909?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hfpoik-tmp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfpoik-tmp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfpoik-tmp\" document-type=\"chapter\" object-id=\"hfpoik-tmp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_folate-mal\"><title>Hereditary Folate Malabsorption</title><subtitle content-type=\"alt-title\">Synonym: Congenital Folate Malabsorption</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldman</surname><given-names>I David</given-names></name><degrees>MD</degrees><aff>Departments of Medicine, Oncology, and Molecular Pharmacology<break/>Albert Einstein College of Medicine<break/>Bronx, New York</aff><email>i.david.goldman@einsteinmed.edu</email></contrib></contrib-group><?date-created 20080617?><?date-updated 20260325?><?date-revised 20240215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_folate-mal.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_folate-mal.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"folate-mal\" document-type=\"chapter\" object-id=\"folate-mal.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hfi\"><title>Hereditary Fructose Intolerance</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gaughan</surname><given-names>Sommer</given-names></name><degrees>RD, CSP</degrees><aff>Children's Hospital Colorado<break/>Aurora, Colorado</aff><email>sommer.gaughan@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ayres</surname><given-names>Lachlan</given-names></name><degrees>MB, ChB, MRCP</degrees><aff>University Hospitals Dorset<break/>Dorset, United Kingdom</aff><email>lachlan.ayres@uhd.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baker</surname><given-names>Peter R</given-names><suffix>II</suffix></name><degrees>MD, FAAP, FACMG</degrees><aff>Children's Hospital Colorado;<break/>University of Colorado School of Medicine<break/>Aurora, Colorado</aff><email>peter.baker@childrenscolorado.org</email></contrib></contrib-group><?date-created 20151217?><?date-updated 20210218?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hfi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hfi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hfi\" document-type=\"chapter\" object-id=\"hfi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hht\"><title>Hereditary Hemorrhagic Telangiectasia</title><subtitle content-type=\"alt-title\">Synonyms: HHT, Osler-Weber-Rendu Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McDonald</surname><given-names>Jamie</given-names></name><degrees>MS, CGC</degrees><aff>Department of Pathology<break/>University of Utah Medical Center<break/>Salt Lake City, Utah</aff><email>jamie.mcdonald@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gossage</surname><given-names>James R</given-names></name><degrees>MD</degrees><aff>Augusta University<break/>Augusta, Georgia</aff><email>jgossage@augusta.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevenson</surname><given-names>David A</given-names></name><degrees>MD</degrees><aff>Division of Medical Genetics<break/>Department of Pediatrics<break/>Stanford University<break/>Stanford, California</aff><email>dasteven@stanford.edu</email></contrib></contrib-group><?date-created 20000626?><?date-updated 20260219?><?date-revised 20040316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hht.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hht.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hht\" document-type=\"chapter\" object-id=\"hht.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyperek\"><title>Hereditary Hyperekplexia Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balint</surname><given-names>Bettina</given-names></name><degrees>MD</degrees><email>b.balint@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thomas</surname><given-names>Rhys</given-names></name><degrees>PhD, FRCP</degrees><email>rhys.thomas@ncl.ac.uk</email></contrib></contrib-group><?date-created 20070731?><?date-updated 20191219?><?date-revised 20090519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyperek.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Hereditary_Hyperekplexia_Clinica\"><title> Hereditary Hyperekplexia: Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Hereditary_Hyperekplexia_Clinica\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Hereditary_Hyperekplexia_Causes\"><title> Hereditary Hyperekplexia: Causes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Hereditary_Hyperekplexia_Causes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Hereditary_Hyperekplexia_Evaluat\"><title> Hereditary Hyperekplexia: Evaluation Strategy to Identify the Genetic Cause in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Hereditary_Hyperekplexia_Evaluat\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Hereditary_Hyperekplexia_Managem\"><title> Hereditary Hyperekplexia: Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Hereditary_Hyperekplexia_Managem\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Hereditary_Hyperekplexia_Genetic\"><title> Hereditary Hyperekplexia: Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Hereditary_Hyperekplexia_Genetic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyperek.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyperek\" document-type=\"chapter\" object-id=\"hyperek.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_accpn\"><title>Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</title><subtitle content-type=\"alt-title\">Synonyms: Agenesis of Corpus Callosum with Peripheral Neuropathy (ACCPN), Andermann Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gauvreau</surname><given-names>Claudie</given-names></name><degrees>MD, MSc</degrees><aff>Neurology resident, CHU de Qu&#x000e9;bec &#x02013; Enfant-J&#x000e9;sus<break/>Laval University<break/>Quebec City, Canada</aff><email>claudie.gauvreau.2@ulaval.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brisson</surname><given-names>Jean-Denis</given-names></name><degrees>MD, FRCP(C)</degrees><aff>Neurologist, Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires<break/>Centre Int&#x000e9;gr&#x000e9; Universitaire de Sant&#x000e9; et de Services Sociaux du Saguenay-Lac-Saint-Jean;<break/>Sherbrooke University<break/>Quebec, Canada</aff><email>jean-denis.brisson@usherbrooke.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dupr&#x000e9;</surname><given-names>Nicolas</given-names></name><degrees>MD, MSc, FRCP(C)</degrees><aff>Neurologist, Neurogenetics Clinic<break/>Department of Neurological Sciences<break/>CHA &#x02013; Enfant-J&#x000e9;sus<break/>Quebec City, Canada</aff><email>nicolas.dupre@chudequebec.ca</email></contrib></contrib-group><?date-created 20060202?><?date-updated 20200917?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_accpn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_accpn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"accpn\" document-type=\"chapter\" object-id=\"accpn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ext\"><title>Hereditary Multiple Osteochondromas</title><subtitle content-type=\"alt-title\">Synonyms: Bessel-Hagen Disease, Diaphyseal Aclasis, Hereditary Multiple Exostoses (HME), Multiple Cartilaginous Exostoses, Multiple Hereditary Exostoses (MHE)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sefcik</surname><given-names>Ryan</given-names></name><degrees>MD</degrees><email>ryan.sefcik@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Earl</surname><given-names>Dawn</given-names></name><degrees>ARNP</degrees><email>dawn.earl@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thorpe</surname><given-names>Steven</given-names></name><degrees>MD</degrees><email>steven.thorpe@childrenscolorado.org</email></contrib></contrib-group><?date-created 20000803?><?date-updated 20260129?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ext.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ext.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ext\" document-type=\"chapter\" object-id=\"ext.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hmerf\"><title>Hereditary Myopathy with Early Respiratory Failure</title><subtitle content-type=\"alt-title\">Synonyms: HMERF, MFM-Titinopathy, Myofibrillar Myopathy with Early Respiratory Failure</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pfeffer</surname><given-names>Gerald</given-names></name><degrees>MD, CM, FRCPC, PhD</degrees><aff>Hotchkiss Brain Institute<break/>University of Calgary<break/>Calgary, Canada</aff><email>gerald.pfeffer@ucalgary.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chinnery</surname><given-names>Patrick F</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci</degrees><aff>Department of Clinical Neurosciences<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>pfc25@medschl.cam.ac.uk</email></contrib></contrib-group><?date-created 20140227?><?date-updated 20200319?><?date-revised 20241212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hmerf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmerf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmerf\" document-type=\"chapter\" object-id=\"hmerf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ndi\"><title>Hereditary Nephrogenic Diabetes Insipidus</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knoers</surname><given-names>Nine</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genetics<break/>University Medical Center Groningen<break/>Groningen, the Netherlands</aff><email>v.v.a.m.knoers@umcg.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemmink</surname><given-names>Henny</given-names></name><degrees>PhD</degrees><aff>Department of Genetics<break/>University Medical Center<break/>Groningen, the Netherlands</aff><email>h.h.lemmink@umcg.nl</email></contrib></contrib-group><?date-created 20000212?><?date-updated 20200227?><?date-revised 20070608?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ndi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ndi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ndi\" document-type=\"chapter\" object-id=\"ndi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hnpp\"><title>Hereditary Neuropathy with Liability to Pressure Palsies</title><subtitle content-type=\"alt-title\">Synonym: HNPP</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chrestian</surname><given-names>Nicolas</given-names></name><degrees>MD, FRCPC, CSCN</degrees><aff>CHU Laval&#x02013;CHU de Qu&#x000e9;bec;<break/>Centre de Recherche du CHU<break/>Qu&#x000e9;bec City, Qu&#x000e9;bec, Canada</aff><email>nicolas.chrestian.1@ulaval.ca</email></contrib></contrib-group><?date-created 19980928?><?date-updated 20200827?><?date-revised 20030407?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hnpp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpp\" document-type=\"chapter\" object-id=\"hnpp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_paragangliomas\"><title>Hereditary Paraganglioma-Pheochromocytoma Syndromes</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Else</surname><given-names>Tobias</given-names></name><degrees>MD</degrees><aff>Associate Professor, Division of Metabolism, Endocrinology, and Diabetes<break/>Department of Internal Medicine<break/>University of Michigan<break/>Ann Arbor, Michigan</aff><email>telse@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Greenberg</surname><given-names>Samantha</given-names></name><degrees>MS, MPH, CGC</degrees><aff>Director, UT Southwestern Genetic Counseling Program;<break/>Assistant Professor, Department of Health Care Sciences<break/>UT Southwestern Medical Center<break/>Dallas, Texas</aff><email>samantha.greenberg@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fishbein</surname><given-names>Lauren</given-names></name><degrees>MD, PhD, MTR</degrees><aff>Associate Professor, Division of Endocrinology, Metabolism and Diabetes;<break/>Department of Medicine; Department of Biomedical Informatics<break/>University of Colorado School of Medicine<break/>Aurora, Colorado</aff><email>lauren.fishbein@cuanschutz.edu</email></contrib></contrib-group><?date-created 20080521?><?date-updated 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_paragangliomas.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_paragangliomas.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"paragangliomas\" document-type=\"chapter\" object-id=\"paragangliomas.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hsan2\"><title>Hereditary Sensory and Autonomic Neuropathy Type II</title><subtitle content-type=\"alt-title\">Synonyms: Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2), HSANII</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurth</surname><given-names>Ingo</given-names></name><degrees>MD</degrees><aff>Institute of Human GeneticsUniklinik RWTH AachenAachen, Germany</aff><email>ikurth@ukaachen.de</email></contrib></contrib-group><?date-created 20101123?><?date-updated 20210401?><?date-revised 20111103?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hsan2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan2\" document-type=\"chapter\" object-id=\"hsan2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tfap\"><title>Hereditary Transthyretin Amyloidosis</title><subtitle content-type=\"alt-title\">Synonyms: ATTRv Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, hATTR, Hereditary Amyloidogenic Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis, Hereditary Transthyretin-Mediated Amyloidosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sekijima</surname><given-names>Yoshiki</given-names></name><degrees>MD, PhD</degrees><email>sekijima@shinshu-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nakamura</surname><given-names>Katsuya</given-names></name><degrees>MD, PhD</degrees><email>katsuya@shinshu-u.ac.jp</email></contrib></contrib-group><?date-created 20011105?><?date-updated 20240530?><?date-revised 20210617?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tfap.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfap.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfap\" document-type=\"chapter\" object-id=\"tfap.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pph\"><title>Heritable Pulmonary Arterial Hypertension Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Geiger</surname><given-names>Hanabi</given-names></name><email>hanabi.u.geiger@vanderbilt.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tinker</surname><given-names>Rory J</given-names></name><degrees>MD</degrees><email>rory.tinker@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Talbert</surname><given-names>Janet</given-names></name><degrees>MS, CGC</degrees><email>janet.talbert@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phillips</surname><given-names>John A</given-names><suffix>III</suffix></name><degrees>MD no PhD</degrees><email>john.a.phillips@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Austin</surname><given-names>Eric D</given-names></name><degrees>MD, MSCI</degrees><email>eric.austin@vumc.org</email></contrib></contrib-group><?date-created 20020718?><?date-updated 20260409?><?date-revised 20121220?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pph.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Clinical_Characteristics_of_Heritabl\"><title> Clinical Characteristics of Heritable Pulmonary Arterial Hypertension</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Clinical_Characteristics_of_Heritabl\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Genetic_Causes_of_Heritable_Pulmonar\"><title> Genetic Causes of Heritable Pulmonary Arterial Hypertension</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Genetic_Causes_of_Heritable_Pulmonar\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Differential_Diagnosis_of_Heritable\"><title> Differential Diagnosis of Heritable Pulmonary Arterial Hypertension</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Differential_Diagnosis_of_Heritable\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Heritable Pulmonary Arterial Hypertension in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Management_of_Heritable_Pulmonary_Ar\"><title> Management of Heritable Pulmonary Arterial Hypertension</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Management_of_Heritable_Pulmonary_Ar\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pph.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pph\" document-type=\"chapter\" object-id=\"pph.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_taa\"><title>Heritable Thoracic Aortic Disease Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milewicz</surname><given-names>Dianna M</given-names></name><degrees>MD, PhD</degrees><email>dianna.m.milewicz@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cecchi</surname><given-names>Alana C</given-names></name><degrees>MS, CGC</degrees><email>alana.c.cecchi@uth.tmc.edu</email></contrib></contrib-group><?date-created 20030213?><?date-updated 20230504?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_taa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Clinical_Characteristics_of_Thoracic\"><title> Clinical Characteristics of Thoracic Aortic Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Clinical_Characteristics_of_Thoracic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Causes_of_Heritable_Thoracic_Aortic\"><title> Causes of Heritable Thoracic Aortic Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Causes_of_Heritable_Thoracic_Aortic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Evaluation_and_Genetic_Risk_Assessme\"><title> Evaluation and Genetic Risk Assessment for Heritable Thoracic Aortic Disease in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Evaluation_and_Genetic_Risk_Assessme\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Genetic_Risk_Assessment_and_Cascade\"><title> Genetic Risk Assessment and Cascade Testing in Family Members of a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Genetic_Risk_Assessment_and_Cascade\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taa\" document-type=\"chapter\" object-id=\"taa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hps\"><title>Hermansky-Pudlak Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Introne</surname><given-names>Wendy J</given-names></name><degrees>MD</degrees><email>wintrone@nhgri.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huizing</surname><given-names>Marjan</given-names></name><degrees>PhD</degrees><email>mhuizing@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Malicdan</surname><given-names>May Christine V</given-names></name><degrees>MD, PhD</degrees><email>maychristine.malicdan@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>O'Brien</surname><given-names>Kevin J</given-names></name><degrees>RN, MS-CRNP</degrees><email>obrienke@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gahl</surname><given-names>William A</given-names></name><degrees>MD, PhD</degrees><email>gahlw@mail.nih.gov</email></contrib></contrib-group><?date-created 20000724?><?date-updated 20230316?><?date-revised 20230525?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hps\" document-type=\"chapter\" object-id=\"hps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tay-sachs\"><title><italic toggle=\"yes\">HEXA</italic> Disorders</title><subtitle content-type=\"alt-title\">Synonyms: Beta-Hexosaminidase A Deficiency; GM2 Gangliosidosis, Type I; Tay-Sachs Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toro</surname><given-names>Camilo</given-names></name><degrees>MD</degrees><email>toroc@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shirvan</surname><given-names>Leila</given-names></name><degrees>BA</degrees><email>leila.shirvan@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tifft</surname><given-names>Cynthia</given-names></name><degrees>MD, PhD</degrees><email>cynthiat@mail.nih.gov</email></contrib></contrib-group><?date-created 19990311?><?date-updated 20201001?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tay-sachs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tay-sachs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tay-sachs\" document-type=\"chapter\" object-id=\"tay-sachs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hemochromatosis\"><title><italic toggle=\"yes\">HFE-</italic>Related Hemochromatosis</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">HFE</italic>-Associated Hemochromatosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barton</surname><given-names>James C</given-names></name><degrees>MD</degrees><aff>University of Alabama at Birmingham;<break/>Southern Iron Disorders Center<break/>Birmingham, Alabama</aff><email>bartonjames336@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parker</surname><given-names>Charles J</given-names></name><degrees>MD</degrees><aff>Division of Hematology and Hematologic Malignancies<break/>University of Utah School of Medicine<break/>Salt Lake City, Utah</aff><email>charles.parker@hsc.utah.edu</email></contrib></contrib-group><?date-created 20000403?><?date-updated 20240411?><?date-revised 20050713?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hemochromatosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hemochromatosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hemochromatosis\" document-type=\"chapter\" object-id=\"hemochromatosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ed2\"><title>Hidrotic Ectodermal Dysplasia 2</title><subtitle content-type=\"alt-title\">Synonym: Clouston Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mellerio</surname><given-names>Jemima</given-names></name><degrees>BSc, MB BS, MD, FRCP</degrees><email>jemima.mellerio@kcl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Greenblatt</surname><given-names>Danielle</given-names></name><degrees>MB ChB, FRCP</degrees><email>danielle.greenblatt@gstt.nhs.uk</email></contrib></contrib-group><?date-created 20050425?><?date-updated 20201015?><?date-revised 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ed2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ed2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ed2\" document-type=\"chapter\" object-id=\"ed2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hirschsprung-ov\"><title>Hirschsprung Disease Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><subtitle content-type=\"alt-title\">Synonyms: Aganglionic Megacolon, HSCR</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parisi</surname><given-names>Melissa A</given-names></name><degrees>MD, PhD</degrees><aff>Eunice Kennedy Shriver National Institute of Child Health and Human Development<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>parisima@mail.nih.gov</email></contrib></contrib-group><?date-created 20020712?><?date-updated 20151001?><?date-revised 20111110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hirschsprung-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Definition\"><title>Definition</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Definition\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Causes\"><title>Causes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Causes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Evaluation_Strategy\"><title>Evaluation Strategy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Evaluation_Strategy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hirschsprung-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hirschsprung-ov\" document-type=\"chapter\" object-id=\"hirschsprung-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_h1-4\"><title>HIST1H1E Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Rahman Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burkardt</surname><given-names>Deepika</given-names></name><degrees>DO</degrees><email>burkardtdd@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tatton-Brown</surname><given-names>Katrina</given-names></name><degrees>MD</degrees><email>k.tattonbrown@nhs.net</email></contrib></contrib-group><?date-created 20201203?><?date-revised 20221215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_h1-4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_h1-4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"h1-4\" document-type=\"chapter\" object-id=\"h1-4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hnrnph2-ndd\"><title><italic toggle=\"yes\">HNRNPH2</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Bain Type Syndromic Intellectual Disability; X-Linked Syndromic Intellectual Developmental Disorder, Bain Type</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Madhok</surname><given-names>Sehajvir</given-names></name><degrees>MD</degrees><aff>Child Neurology<break/>New York-Presbyterian<break/>Columbia University Irving Medical Center<break/>New York, New York</aff><email>sm5168@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bain</surname><given-names>Jennifer</given-names></name><degrees>MD, PhD</degrees><aff>Columbia University Irving Medical Center<break/>New York, New York</aff><email>jb3634@cumc.columbia.edu</email></contrib></contrib-group><?date-created 20220915?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hnrnph2-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnph2-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnph2-ndd\" document-type=\"chapter\" object-id=\"hnrnph2-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hnrnpu-ndd\"><title><italic toggle=\"yes\">HNRNPU</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Developmental and Epileptic Encephalopathy 54, Early Infantile Epileptic Encephalopathy Type 54</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balasubramanian</surname><given-names>Meena</given-names></name><degrees>MBBS, DCH, FRCPCH, MD</degrees><aff>Senior Clinical Lecturer, Department of Oncology &#x00026; Metabolism<break/>University of Sheffield<break/>Consultant Clinical Geneticist, Sheffield Clinical Genetics Service<break/>Lead Consultant, OI-Genetics Service<break/>Highly Specialised Severe, Complex &#x00026; Atypical OI Service<break/>Sheffield Children's NHS Foundation Trust</aff><email>meena.balasubramanian@nhs.net</email><email>m.balasubramanian@sheffield.ac.uk</email></contrib></contrib-group><?date-created 20220310?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hnrnpu-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnrnpu-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnrnpu-ndd\" document-type=\"chapter\" object-id=\"hnrnpu-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hpe-overview\"><title>Holoprosencephaly Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tekendo-Ngongang</surname><given-names>Cedrik</given-names></name><degrees>MD</degrees><email>cedrik.ngongang@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Muenke</surname><given-names>Maximilian</given-names></name><degrees>MD, FACMG</degrees><email>mmuenke@acmg.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kruszka</surname><given-names>Paul</given-names></name><degrees>MD, MPH</degrees><email>paul.kruszka@nih.gov</email></contrib></contrib-group><?date-created 20001227?><?date-updated 20200305?><?date-revised 20260609?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hpe-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of Holoprosencephaly</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Genetic_Causes_of_Holoprose\"><title> Genetic Causes of Holoprosencephaly</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Genetic_Causes_of_Holoprose\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Evaluation_Strategies_to_Id\"><title> Evaluation Strategies to Identify the Genetic Cause of Holoprosencephaly in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Evaluation_Strategies_to_Id\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpe-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpe-overview\" document-type=\"chapter\" object-id=\"hpe-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hos\"><title>Holt-Oram Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Heart-Hand Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanlerberghe</surname><given-names>Cl&#x000e9;mence</given-names></name><degrees>MD, PhD</degrees><email>clemence.vanlerberghe@chu-lille.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Petit</surname><given-names>Florence</given-names></name><degrees>MD, PhD</degrees><email>florence.petit@chu-lille.fr</email></contrib></contrib-group><?date-created 20040720?><?date-updated 20250731?><?date-revised 20061122?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hos.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hos.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hos\" document-type=\"chapter\" object-id=\"hos.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_homocystinuria\"><title>Homocystinuria due to Cystathionine Beta-Synthase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Classic Homocystinuria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sacharow</surname><given-names>Stephanie J</given-names></name><degrees>MD</degrees><email>stephanie.sacharow@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levy</surname><given-names>Harvey L</given-names></name><degrees>MD</degrees><email>harvey.levy@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20040115?><?date-updated 20250925?><?date-revised 20050815?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_homocystinuria.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_homocystinuria.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"homocystinuria\" document-type=\"chapter\" object-id=\"homocystinuria.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria\"><title>Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity</title><subtitle content-type=\"alt-title\">Synonym: Homocystinuria due to MTHFR Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Umair</surname><given-names>Muhammad</given-names></name><degrees>MS, PhD</degrees><aff>Medical Genomics Research Department<break/>King Abdullah International Medical Research Center (KAIMRC)<break/>King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS)<break/>Ministry of National Guard Health Affairs (MNGHA)<break/>Riyadh, Saudi Arabia</aff><email>umairmu@mngha.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alfadhel</surname><given-names>Majid</given-names></name><degrees>MD, MHSc, SSC-Ped, ABHS(CH), FCCMG</degrees><aff>Genetics and Precision Medicine Department<break/>King Abdullah Specialized Children Hospital (KASCH)<break/>King Abdulaziz Medical City<break/>Ministry of National Guard Health Affairs (MNGHA)<break/>Riyadh, Saudi Arabia</aff><email>dralfadhelm@gmail.com</email></contrib></contrib-group><?date-created 20250529?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mthfr-homocystinuria.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Clinical_Characteri\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Clinical_Characteri\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Genetically_Related\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Genetically_Related\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Differential_Diagno\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Differential_Diagno\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mthfr-homocystinuria.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mthfr-homocystinuria\" document-type=\"chapter\" object-id=\"mthfr-homocystinuria.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hoxa1-dis\"><title><italic toggle=\"yes\">HOXA1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jacob</surname><given-names>Prince</given-names></name><degrees>MSc, PhD</degrees><aff>Department of Medical Genetics<break/>JSS Medical College and JSS Hospital<break/>JSS Academy of Higher Education and Research<break/>Mysuru, India</aff><email>princejacob@jssuni.edu.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhat</surname><given-names>Venkatraman</given-names></name><degrees>MD</degrees><aff>Department of Radiology<break/>Mazumdar Shaw Medical Centre&#x000a0;/ Narayana Hrudayalaya Hospitals<break/>Bangalore, India</aff><email>bvenkatraman@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patil</surname><given-names>Siddaramappa J</given-names></name><degrees>MD, DM</degrees><aff>Division of Medical Genetics<break/>Mazumdar Shaw Medical Centre&#x000a0;/ Narayana Hrudayalaya Hospitals<break/>Bangalore, India</aff><email>drsjpatil@gmail.com</email></contrib></contrib-group><?date-created 20241114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hoxa1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hoxa1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hoxa1-dis\" document-type=\"chapter\" object-id=\"hoxa1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lns\"><title><italic toggle=\"yes\">HPRT1</italic> Disorders</title><subtitle content-type=\"alt-title\">Synonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jinnah</surname><given-names>Hyder A</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Departments of Neurology &#x00026; Human Genetics\nEmory University School of Medicine\nAtlanta, Georgia</aff><email>hjinnah@emory.edu</email></contrib></contrib-group><?date-created 20000925?><?date-updated 20200806?><?date-revised 20090127?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lns.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lns.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lns\" document-type=\"chapter\" object-id=\"lns.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_costello\"><title><italic toggle=\"yes\">HRAS</italic>-Related Costello Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gripp</surname><given-names>Karen W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>kgripp@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weaver</surname><given-names>K Nicole</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>kathryn.weaver@cchmc.org</email></contrib></contrib-group><?date-created 20060829?><?date-updated 20231221?><?date-revised 20260521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_costello.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_costello.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"costello\" document-type=\"chapter\" object-id=\"costello.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_carasil\"><title><italic toggle=\"yes\">HTRA1</italic> Disorder</title><subtitle content-type=\"alt-title\">Synonym: CARASIL (<italic toggle=\"yes\">C</italic>erebral <italic toggle=\"yes\">A</italic>utosomal <italic toggle=\"yes\">R</italic>ecessive <italic toggle=\"yes\">A</italic>rteriopathy with <italic toggle=\"yes\">S</italic>ubcortical <italic toggle=\"yes\">I</italic>nfarcts and <italic toggle=\"yes\">L</italic>eukoencephalopathy)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Onodera</surname><given-names>Osamu</given-names></name><degrees>MD, PhD</degrees><email>onodera@bri.niigata-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nozaki</surname><given-names>Hiroaki</given-names></name><degrees>MD, PhD</degrees><email>nozak@bri.niigata-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fukutake</surname><given-names>Toshio</given-names></name><degrees>MD, PhD</degrees><email>fukutake.toshio@kameda.jp</email></contrib></contrib-group><?date-created 20100427?><?date-updated 20191107?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_carasil.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_carasil.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"carasil\" document-type=\"chapter\" object-id=\"carasil.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_huntington\"><title>Huntington Disease</title><subtitle content-type=\"alt-title\">Synonym: Huntington Chorea</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Caldeira Br&#x000e1;s</surname><given-names>In&#x000ea;s</given-names></name><degrees>PhD</degrees><email>ibras@cmmt.ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dawson</surname><given-names>Jessica</given-names></name><degrees>PhD</degrees><email>jdawson@cmmt.ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kay</surname><given-names>Chris</given-names></name><degrees>PhD</degrees><email>ckay@cmmt.ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Caron</surname><given-names>Nicholas S</given-names></name><degrees>PhD</degrees><email>ncaron@cmmt.ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayden</surname><given-names>Michael R</given-names></name><degrees>MB, ChB, PhD, FRCP(C), FRSC</degrees><email>mrh@cmmt.ubc.ca</email></contrib></contrib-group><?date-created 19981023?><?date-updated 20260212?><?date-revised 20250830?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_huntington.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huntington.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huntington\" document-type=\"chapter\" object-id=\"huntington.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hd-l2\"><title>Huntington Disease-Like 2</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anderson</surname><given-names>David G</given-names></name><degrees>MBBCh, FCN, MMed, PhD</degrees><aff>Consultant Neurologist<break/>Queen Elizabeth University Hospital;<break/>Honorary Senior Lecturer<break/>University of Glasgow<break/>Glasgow, Scotland, United Kingdom</aff><email>dave.anderson.2@glasgow.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krause</surname><given-names>Amanda</given-names></name><degrees>MBBCh, PhD</degrees><aff>Head, Division of Human Genetics<break/>National Health Laboratory Service and School of Pathology<break/>Faculty of Health Sciences<break/>University of the Witwatersrand<break/>Johannesburg, South Africa</aff><email>amanda.krause@wits.ac.za</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Margolis</surname><given-names>Russell L</given-names></name><degrees>MD</degrees><aff>ABCD Charitable Trust Professor of Schizophrenia<break/>Professor of Psychiatry and Neurology<break/>Laboratory of Genetic Neurobiology<break/>Division of Neurobiology<break/>Department of Psychiatry<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>rmargoli@jhmi.edu</email></contrib></contrib-group><?date-created 20040130?><?date-updated 20250410?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hd-l2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hd-l2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hd-l2\" document-type=\"chapter\" object-id=\"hd-l2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_huppke-brendel\"><title>Huppke-Brendel Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parayil Sankaran</surname><given-names>Bindu</given-names></name><degrees>MD, DM, FRACP, PhD</degrees><email>bindu.parayilsankaran@health.nsw.gov.au</email><email>dpsbindu@yahoo.co.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chiplunkar</surname><given-names>Shwetha</given-names></name><degrees>MBBS, PhD, MRCGP</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vandana</surname><given-names>VP</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagappa</surname><given-names>Madhu</given-names></name><degrees>MD, DM</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Govindaraj</surname><given-names>Periyasamy</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taly</surname><given-names>AB</given-names></name><degrees>MD, DM</degrees></contrib></contrib-group><?date-created 20190613?><?date-updated 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_huppke-brendel.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_huppke-brendel.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"huppke-brendel\" document-type=\"chapter\" object-id=\"huppke-brendel.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hgps\"><title>Hutchinson-Gilford Progeria Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordon</surname><given-names>Leslie B</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>Alpert Medical School of Brown University<break/>Providence, Rhode Island</aff><email>lgordon@progeriaresearch.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brown</surname><given-names>W Ted</given-names></name><degrees>MD, PhD</degrees><aff>Institute for Basic Research in Developmental Disabilities<break/>Staten Island, New York</aff><email>wtbibr@aol.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Collins</surname><given-names>Francis S</given-names></name><degrees>MD, PhD</degrees><aff>Senior Investigator, National Institutes of Health<break/>Bethesda, Maryland</aff><email>francis.collins@nih.gov</email></contrib></contrib-group><?date-created 20031212?><?date-updated 20250313?><?date-revised 20231019?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hgps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hgps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hgps\" document-type=\"chapter\" object-id=\"hgps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyal2-def\"><title>HYAL2 Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Orofacial Clefting and Cor Triatriatum Sinister Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fasham</surname><given-names>James</given-names></name><degrees>BSc, MBChB, PhD</degrees><email>j.fasham@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wenger</surname><given-names>Olivia K</given-names></name><degrees>MD</degrees><email>owenger@newleafclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crosby</surname><given-names>Andrew H</given-names></name><degrees>BSc,<?break?>PhD</degrees><email>a.h.crosby@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baple</surname><given-names>Emma L</given-names></name><degrees>BSc, MBBS, MRCPCH, PhD</degrees><email>e.baple@exeter.ac.uk</email></contrib></contrib-group><?date-created 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyal2-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyal2-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyal2-def\" document-type=\"chapter\" object-id=\"hyal2-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sys-h\"><title>Hyaline Fibromatosis Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ANTXR2</italic>-Related Hyaline Fibromatosis Syndrome, Inherited Systemic Hyalinosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shieh</surname><given-names>Joseph TC</given-names></name><degrees>MD, PhD</degrees><aff>Division of Medical Genetics<break/>Department of Pediatrics<break/>Benioff Children&#x02019;s Hospital<break/>University of California San Francisco<break/>San Francisco, California</aff><email>joseph.shieh2@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoyme</surname><given-names>H Eugene</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Sanford School of Medicine<break/>University of South Dakota<break/>Sanford Children's Hospital<break/>Sioux Falls, South Dakota</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arbour</surname><given-names>Laura T</given-names></name><degrees>MD</degrees><aff>Department of Medical Genetics<break/>Island Medical Program<break/>University of British Columbia<break/>Victoria, British Columbia, Canada</aff></contrib></contrib-group><?date-created 20080227?><?date-updated 20260212?><?date-revised 20230511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sys-h.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sys-h.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sys-h\" document-type=\"chapter\" object-id=\"sys-h.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyper-pp\"><title>Hyperkalemic Periodic Paralysis</title><subtitle content-type=\"alt-title\">Synonyms: HyperKPP, HyperPP, HYPP</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weber</surname><given-names>Frank</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>German Air Force Center of Aviation Medicine<break/>F&#x000fc;rstenfeldbruck, Germany</aff><email>frankweber@bundeswehr.org</email></contrib></contrib-group><?date-created 20030718?><?date-updated 20210701?><?date-revised 20090811?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyper-pp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-pp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-pp\" document-type=\"chapter\" object-id=\"hyper-pp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hmdpc\"><title>Hypermanganesemia with Dystonia 1</title><subtitle content-type=\"alt-title\">Synonyms: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; HMNDYT1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tuschl</surname><given-names>Karin</given-names></name><degrees>MD</degrees><email>k.tuschl@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Clayton</surname><given-names>Peter T</given-names></name><degrees>MD</degrees><email>peter.clayton@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gospe</surname><given-names>Sidney M</given-names><suffix>Jr</suffix></name><degrees>MD, PhD</degrees><email>sgospe@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mills</surname><given-names>Philippa B</given-names></name><degrees>PhD</degrees><email>p.mills@ucl.ac.uk</email></contrib></contrib-group><?date-created 20120830?><?date-updated 20211223?><?date-revised 20121108?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hmdpc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hmdpc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hmdpc\" document-type=\"chapter\" object-id=\"hmdpc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds3\"><title>Hypermobile Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Ehlers-Danlos Syndrome Hypermobility Type, Ehlers-Danlos Syndrome Type III, hEDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hakim</surname><given-names>Alan</given-names></name><degrees>BA, MBBChir, MA</degrees><aff>The Harley Street Clinic<break/>HCA Healthcare<break/>London UK</aff><email>alan.hakim@ehlers-danlos.com</email></contrib></contrib-group><?date-created 20041022?><?date-updated 20240222?><?date-revised 20180621?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds3\" document-type=\"chapter\" object-id=\"eds3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hhhs\"><title>Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome</title><subtitle content-type=\"alt-title\">Synonym: HHH Syndrome, ORNT1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Camacho</surname><given-names>Jose</given-names></name><degrees>MD</degrees><aff>Loma Linda University Health<break/>Loma Linda, California</aff><email>jocamacho@llu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rioseco-Camacho</surname><given-names>Natalia</given-names></name><degrees>BA</degrees><email>nrioseco@hotmail.com</email></contrib></contrib-group><?date-created 20120531?><?date-updated 20200213?><?date-revised 20250410?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hhhs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hhhs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hhhs\" document-type=\"chapter\" object-id=\"hhhs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyper-ftc\"><title>Hyperphosphatemic Familial Tumoral Calcinosis</title><subtitle content-type=\"alt-title\">Synonyms: Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome (FTC/HHS), HFTC, Hyperostosis-Hyperphosphatemia Syndrome, Primary Hyperphosphatemic Tumoral Calcinosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ramnitz</surname><given-names>Mary Scott</given-names></name><degrees>MD</degrees><email>ramnitzms@nidcr.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gafni</surname><given-names>Rachel I</given-names></name><degrees>MD</degrees><email>gafnir@nidcr.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Collins</surname><given-names>Michael T</given-names></name><degrees>MD</degrees><email>mcollins@dir.nidcr.nih.gov</email></contrib></contrib-group><?date-created 20180201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyper-ftc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-ftc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-ftc\" document-type=\"chapter\" object-id=\"hyper-ftc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hypochondroplasia\"><title>Hypochondroplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bober</surname><given-names>Michael B</given-names></name><degrees>MD, PhD</degrees><aff>Alfred I duPont Hospital for Children<break/>Wilmington, Delaware</aff><email>michael.bober@nemours.org</email><email>mikebbober@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bellus</surname><given-names>Gary A</given-names></name><degrees>MD, PhD</degrees><aff>Geisinger Health System<break/>Danville, Pennsylvania</aff><email>gbellus@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cheung</surname><given-names>Moira S</given-names></name><degrees>MD, PhD</degrees><aff>Great Ormond Street Hospital<break/>London, United Kingdom</aff><email>moira.cheung@gosh.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jain</surname><given-names>Mahim</given-names></name><degrees>MD, PhD</degrees><aff>Nemours Children&#x02019;s Hospital<break/>Wilmington, Delaware</aff><email>mahim.jain@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nikkel</surname><given-names>Sarah M</given-names></name><degrees>MD</degrees><aff>BC Women&#x02019;s and Children&#x02019;s Hospital<break/>Vancouver, Canada</aff><email>sarah.nikkel@cw.bc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tiller</surname><given-names>George E</given-names></name><degrees>MD, PhD</degrees><aff>Southern California Permanente Medical Group<break/>Los Angeles, California</aff><email>george.e.tiller@kp.org</email></contrib></contrib-group><?date-created 19990715?><?date-updated 20250925?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hypochondroplasia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypochondroplasia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypochondroplasia\" document-type=\"chapter\" object-id=\"hypochondroplasia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-hed\"><title>Hypohidrotic Ectodermal Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wright</surname><given-names>J Timothy</given-names></name><degrees>DDS, MS</degrees><aff>Distinguished Bawden Professor, Department of Pediatric Dentistry<break/>University of North Carolina<break/>Chapel Hill, North Carolina</aff><email>tim_wright@unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grange</surname><given-names>Dorothy K</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Division of Genetics and Genomic Medicine<break/>Department of Pediatrics<break/>Washington University School of Medicine<break/>St Louis, Missouri</aff><email>grangedk@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fete</surname><given-names>Mary</given-names></name><degrees>MSN, RN, CCM</degrees><aff>Executive Director, National Foundation for Ectodermal Dysplasias<break/>Mascoutah, Illinois</aff><email>mary@nfed.org</email></contrib></contrib-group><?date-created 20030428?><?date-updated 20221027?><?date-revised 20250320?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-hed.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-hed.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-hed\" document-type=\"chapter\" object-id=\"x-hed.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hpp\"><title>Hypokalemic Periodic Paralysis</title><subtitle content-type=\"alt-title\">Synonyms: HOKPP, HypoPP</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weber</surname><given-names>Frank</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>German Air Force Institute of Aviation Medicine<break/>F&#x000fc;rstenfeldbruck, Germany</aff><email>frankweber@bundeswehr.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lehmann-Horn</surname><given-names>Frank</given-names></name><degrees>MD, PhD, MS</degrees><aff>Neurophysiology<break/>Ulm University<break/>Ulm, Germany</aff><email>frank.lehmann-horn@uni-ulm.de</email></contrib></contrib-group><?date-created 20020430?><?date-updated 20180726?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hpp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hpp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hpp\" document-type=\"chapter\" object-id=\"hpp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hypo-mcc\"><title>Hypomyelination and Congenital Cataract</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolf</surname><given-names>Nicole I</given-names></name><degrees>MD, PhD</degrees><email>n.wolf@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biancheri</surname><given-names>Roberta</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zara</surname><given-names>Federico</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bruno</surname><given-names>Claudio</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gazzerro</surname><given-names>Elisabetta</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rossi</surname><given-names>Andrea</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Minetti</surname><given-names>Carlo</given-names></name><degrees>MD</degrees></contrib></contrib-group><?date-created 20081014?><?date-updated 20210114?><?date-revised 20111027?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hypo-mcc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hypo-mcc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hypo-mcc\" document-type=\"chapter\" object-id=\"hypo-mcc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hops\"><title>Hypophosphatasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dahir</surname><given-names>Kathryn M</given-names></name><degrees>MD</degrees><aff>Program for Metabolic Bone Disorders<break/>Vanderbilt University Medical Center<break/>Nashville, Tennessee</aff><email>kathryn.dahir@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nunes</surname><given-names>Mark E</given-names></name><degrees>MD</degrees><aff>Director of Genetics, Genomics, and Metabolism<break/>Cure 4 the Kids Foundation<break/>Las Vegas, Nevada</aff><email>mnunes@cure4thekids.org</email></contrib></contrib-group><?date-created 20071120?><?date-updated 20250327?><?date-revised 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hops.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hops.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hops\" document-type=\"chapter\" object-id=\"hops.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-I?><toc-entry id=\"toc_idednik\"><title>IDEDNIK Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Syndrome; Keratitis-Ichthyosis-Deafness, Autosomal Recessive (KIDAR) Syndrome; MEDNIK Syndrome; MEDNIK-like Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alsaif</surname><given-names>Hessa S</given-names></name><degrees>MSc</degrees><aff>Advanced Diagnostics and Therapeutics Institute<break/>Health Sector<break/>King Abdulaziz City for Science and Technology (KACST)<break/>Riyadh, Saudi Arabia</aff><email>halsaif@kacst.gov.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkuraya</surname><given-names>Fowzan S</given-names></name><degrees>MD</degrees><aff>Department of Translational Genomics<break/>Center for Genomic Medicine<break/>King Faisal Specialist Hospital and Research Center<break/>Riyadh, Saudi Arabia</aff><email>FAlKuraya@kfshrc.edu.sa</email></contrib></contrib-group><?date-created 20241114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_idednik.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_idednik.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"idednik\" document-type=\"chapter\" object-id=\"idednik.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_image\"><title>IMAGe Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schrier Vergano</surname><given-names>Samantha A</given-names></name><degrees>MD</degrees><aff>Division of Medical Genetics and Metabolism\nDepartment of Pediatrics\nChildren&#x02019;s Hospital of the King&#x02019;s Daughters\nEastern Virginia Medical School\nNorfolk, Virginia</aff><email>samantha.vergano@chkd.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deardorff</surname><given-names>Matthew A</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Pathology and Pediatrics\nChildren's Hospital Los Angeles\nUniversity of Southern California\nKeck School of Medicine\nLos Angeles, California</aff><email>mdeardorff@chla.usc.edu</email></contrib></contrib-group><?date-created 20140313?><?date-updated 20210805?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_image.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_image.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"image\" document-type=\"chapter\" object-id=\"image.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ibmpfd\"><title>Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia</title><subtitle content-type=\"alt-title\">Synonyms: IBMPFD, Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia, Multisystem Proteinopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kimonis</surname><given-names>Virginia</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Division of Genetics and Genomic Medicine<break/>University of California Irvine Medical Center<break/>Orange, California</aff><email>vkimonis@uci.edu</email></contrib></contrib-group><?date-created 20070525?><?date-updated 20190912?><?date-revised 20090519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ibmpfd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ibmpfd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ibmpfd\" document-type=\"chapter\" object-id=\"ibmpfd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_i-p\"><title>Incontinentia Pigmenti</title><subtitle content-type=\"alt-title\">Synonym: Bloch-Sulzberger Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scheuerle</surname><given-names>Angela E</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Division of Genetics and Metabolism<break/>Department of Pediatrics<break/>University of Texas Southwestern Medical Center<break/>Dallas, Texas</aff><email>angela.scheuerle@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ursini</surname><given-names>Matilde Valeria</given-names></name><degrees>PhD</degrees><aff>Department of Molecular and Human Genetics<break/>Institute of Genetics and Biophysics<break/>National Research Council<break/>Naples, Italy</aff><email>ursini@igb.cnr.it</email></contrib></contrib-group><?date-created 19990608?><?date-updated 20171221?><?date-revised 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_i-p.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_i-p.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"i-p\" document-type=\"chapter\" object-id=\"i-p.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_inppl1-opsmd\"><title><italic toggle=\"yes\">INPPL1</italic>-Related Opsismodysplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huang</surname><given-names>Samuel</given-names></name><degrees>MD</degrees><aff>Marshfield Clinic<break/>Marshfield, Wisconsin</aff><email>huang.samuel@marshfieldclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Earl</surname><given-names>Dawn</given-names></name><degrees>ARNP</degrees><aff>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>dawn.earl@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>White</surname><given-names>Klane</given-names></name><degrees>MD</degrees><aff>Children's Hospital of Colorado<break/>Aurora, Colorado</aff><email>klane.white@childrenscolorado.org</email></contrib></contrib-group><?date-created 20250612?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_inppl1-opsmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inppl1-opsmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inppl1-opsmd\" document-type=\"chapter\" object-id=\"inppl1-opsmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_insr-ir\"><title><italic toggle=\"yes\">INSR</italic>-Related Severe Insulin Resistance Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mesika</surname><given-names>Aviv</given-names></name><email>avivmasika@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klar</surname><given-names>Aharon</given-names></name><degrees>MD</degrees><email>aklar@inter.net.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Falik Zaccai</surname><given-names>Tzipora C</given-names></name><degrees>MD</degrees><email>falikmd.genetics@gmail.com</email></contrib></contrib-group><?date-created 20180125?><?date-updated 20240425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_insr-ir.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_insr-ir.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"insr-ir\" document-type=\"chapter\" object-id=\"insr-ir.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ipex\"><title>IPEX Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tan</surname><given-names>Queenie K-G</given-names></name><degrees>MD, PhD</degrees><email>tan.khoongheequeenie@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Louie</surname><given-names>Raymond J</given-names></name><degrees>PhD</degrees><email>rlouie@ggc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sleasman</surname><given-names>John W</given-names></name><degrees>MD</degrees><email>john.sleasman@duke.edu</email></contrib></contrib-group><?date-created 20041019?><?date-updated 20240201?><?date-revised 20060427?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ipex.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ipex.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ipex\" document-type=\"chapter\" object-id=\"ipex.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_irf2bpl-dis\"><title><italic toggle=\"yes\">IRF2BPL</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: NEDAMSS (Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss of Speech, and Seizures); <italic toggle=\"yes\">IRF2BPL</italic> Mutation Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanagunas</surname><given-names>Tomas</given-names></name><degrees>MD, PhD</degrees><email>tomas.vanagunas2@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ulm Seiwert</surname><given-names>Elizabeth</given-names></name><degrees>MS, CGC</degrees><email>elizabeth.ulm@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Larsh</surname><given-names>Travis R</given-names></name><degrees>MD</degrees><email>travis.larsh@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marcogliese</surname><given-names>Paul C</given-names></name><degrees>PhD</degrees><email>paul.marcogliese@umanitoba.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pena</surname><given-names>Loren DM</given-names></name><degrees>MD, PhD</degrees><email>loren.pena@alumni.duke.edu</email></contrib></contrib-group><?date-created 20241121?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_irf2bpl-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_irf2bpl-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"irf2bpl-dis\" document-type=\"chapter\" object-id=\"irf2bpl-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vws\"><title><italic toggle=\"yes\">IRF6</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schutte</surname><given-names>Brian C</given-names></name><degrees>PhD</degrees><aff>Department of Microbiology and Molecular Genetics\nDepartment of Pediatrics and Human Development\nMichigan State University\nEast Lansing, Michigan</aff><email>schutteb@msu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saal</surname><given-names>Howard M</given-names></name><degrees>MD, FACMG</degrees><aff>Division of Human Genetics\nCincinnati Children&#x02019;s Hospital Medical Center;\nDepartment of Pediatrics\nUniversity of Cincinnati\nCincinnati, Ohio</aff><email>howard.saal@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goudy</surname><given-names>Steven</given-names></name><degrees>MD, FACS, FAAP</degrees><aff>Department of Otolaryngology\nVanderbilt University\nNashville, Tennessee</aff><email>steven.goudy@vanderbilt.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leslie</surname><given-names>Elizabeth J</given-names></name><degrees>PhD</degrees><aff>Assistant Professor\nDepartment of Human Genetics\nEmory University\nAtlanta, Georgia</aff><email>ejlesli@emory.edu</email></contrib></contrib-group><?date-created 20031030?><?date-updated 20210304?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vws.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vws.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vws\" document-type=\"chapter\" object-id=\"vws.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_isca1-mmds\"><title><italic toggle=\"yes\">ISCA1</italic>-Related Multiple Mitochondrial Dysfunctions Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Multiple Mitochondrial Dysfunctions Syndrome 5</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shukla</surname><given-names>Anju</given-names></name><degrees>MD, DM</degrees><aff>Associate Professor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, India</aff><email>anju.shukla@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Narayanan</surname><given-names>Dhanya Lakshmi</given-names></name><degrees>MD, DM</degrees><aff>Assistant Professor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, India</aff><email>dhanya.lakshmi@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaur</surname><given-names>Parneet</given-names></name><degrees>MSc</degrees><aff>PhD Student, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, India</aff><email>parneetkaurgenetics@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girisha</surname><given-names>Katta Mohan</given-names></name><degrees>MD, DM</degrees><aff>Professor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, India</aff><email>girish.katta@manipal.edu</email></contrib></contrib-group><?date-created 20191003?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_isca1-mmds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca1-mmds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca1-mmds\" document-type=\"chapter\" object-id=\"isca1-mmds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_isca2-mt-dis\"><title><italic toggle=\"yes\">ISCA2</italic>-Related Mitochondrial Disorder</title><subtitle content-type=\"alt-title\">Synonym: Multiple Mitochondrial Dysfunction Syndrome 4</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Al-Hassnan</surname><given-names>Zuhair N</given-names></name><degrees>MD</degrees><email>zhassnan@kfshrc.edu.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaya</surname><given-names>Namik</given-names></name><degrees>PhD</degrees><email>nkaya@kfshrc.edu.sa</email></contrib></contrib-group><?date-created 20180222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_isca2-mt-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_isca2-mt-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"isca2-mt-dis\" document-type=\"chapter\" object-id=\"isca2-mt-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmtc\"><title>Isolated and Classic Cutis Marmorata Telangiectatica Congenita</title><subtitle content-type=\"alt-title\">Synonym: Van Lohuizen Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tamburro</surname><given-names>Joan</given-names></name><degrees>DO</degrees><aff>Department of Dermatology<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>tamburj@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Traboulsi</surname><given-names>Elias I</given-names></name><degrees>MD, MEd</degrees><aff>Professor of Ophthalmology, Cleveland Clinic Lerner College of Medicine<break/>Case Western Reserve University<break/>Cleveland, Ohio</aff><email>traboue@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patel</surname><given-names>Millan S</given-names></name><degrees>MD, MSc</degrees><aff>Clinical Professor, Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, British Columbia, Canada</aff><email>mpatel@cw.bc.ca</email></contrib></contrib-group><?date-created 20220609?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmtc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmtc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmtc\" document-type=\"chapter\" object-id=\"cmtc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kms\"><title>Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Idiopathic Hypogonadotropic Hypogonadism, Isolated Hypogonadotropic Hypogonadism</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balasubramanian</surname><given-names>Ravikumar</given-names></name><degrees>MD, PhD</degrees><aff>Instructor, Harvard Medical School<break/>Reproductive Endocrine Unit<break/>Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>rbalasubramanian@partners.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crowley</surname><given-names>William F</given-names><suffix>Jr</suffix></name><degrees>MD</degrees><aff>Professor of Medicine, Harvard Medical School<break/>Chief, Reproductive Endocrine Unit of the Department of Medicine<break/>Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>wcrowley@partners.org</email></contrib></contrib-group><?date-created 20070523?><?date-updated 20170302?><?date-revised 20220512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kms\" document-type=\"chapter\" object-id=\"kms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mma\"><title>Isolated Methylmalonic Acidemia</title><subtitle content-type=\"alt-title\">Synonym: Isolated Methylmalonic Aciduria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Manoli</surname><given-names>Irini</given-names></name><degrees>MD, PhD</degrees><email>manolii@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sloan</surname><given-names>Jennifer L</given-names></name><degrees>PhD</degrees><email>jsloan@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Venditti</surname><given-names>Charles P</given-names></name><degrees>MD, PhD</degrees><email>venditti@mail.nih.gov</email></contrib></contrib-group><?date-created 20050816?><?date-updated 20220908?><?date-revised 20161201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mma.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mma.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mma\" document-type=\"chapter\" object-id=\"mma.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_iso-def\"><title>Isolated Sulfite Oxidase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Sulfocysteinuria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sankaran</surname><given-names>Bindu Parayil</given-names></name><degrees>MD, DM</degrees><email>drpsbindu@yahoo.co.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagappa</surname><given-names>Madhu</given-names></name><degrees>MD, DM</degrees><email>madhu_nagappa@yahoo.co.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bharath</surname><given-names>Rose Dawn</given-names></name><degrees>DM</degrees><email>drrosedawn@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taly</surname><given-names>Arun B</given-names></name><degrees>MD, DM</degrees><email>abtaly@yahoo.com</email></contrib></contrib-group><?date-created 20170921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_iso-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_iso-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"iso-def\" document-type=\"chapter\" object-id=\"iso-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-J?><toc-entry id=\"toc_jln\"><title>Jervell and Lange-Nielsen Syndrome</title><subtitle content-type=\"alt-title\">Synonym: JLNS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tranebj&#x000e6;rg</surname><given-names>Lisbeth</given-names></name><degrees>MD, PhD</degrees><email>lisbeth.tranebjaerg@regionh.dk</email><email>tranebjaerg@sund.ku.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Samson</surname><given-names>Ricardo A</given-names></name><degrees>MD</degrees><email>rsamson@childrensheartcenter.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Green</surname><given-names>Glenn Edward</given-names></name><degrees>MD</degrees><email>gegreen@med.umich.edu</email></contrib></contrib-group><?date-created 20020729?><?date-updated 20170817?><?date-revised 20030113?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_jln.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jln.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jln\" document-type=\"chapter\" object-id=\"jln.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_joubert\"><title>Joubert Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: JBTS, Joubert Syndrome and Related Disorders (JSRD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Glass</surname><given-names>Ian A</given-names></name><degrees>MB ChB, MD</degrees><aff>Division of Genetic Medicine<break/>Seattle Children's Hospital<break/>University of Washington<break/>Seattle, Washington</aff><email>ianglass@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dempsey</surname><given-names>Jennifer C</given-names></name><degrees>MPH</degrees><aff>Division of Genetic Medicine University of Washington Seattle, Washington</aff><email>dempseyj@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parisi</surname><given-names>Melissa</given-names></name><degrees>MD, PhD</degrees><aff>Eunice Kennedy Shriver National Institute of Child Health and Human Development<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>parisima@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Doherty</surname><given-names>Dan</given-names></name><degrees>MD, PhD</degrees><aff>Divisions of Developmental Medicine and Genetic Medicine<break/>Seattle Children's Hospital<break/>University of Washington<break/>Seattle, Washington</aff><email>ddoher@uw.edu</email></contrib></contrib-group><?date-created 20030709?><?date-updated 20250313?><?date-revised 20260212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_joubert.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Clinical_Characteristics_of_Joub\"><title> Clinical Characteristics of Joubert Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Clinical_Characteristics_of_Joub\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Genetic_Causes_of_Joubert_Syndro\"><title> Genetic Causes of Joubert Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Genetic_Causes_of_Joubert_Syndro\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Evaluation_Strategies_to_Identif\"><title> Evaluation Strategies to Identify the Genetic Cause of Joubert Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Evaluation_Strategies_to_Identif\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_joubert.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"joubert\" document-type=\"chapter\" object-id=\"joubert.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ebj\"><title>Junctional Epidermolysis Bullosa</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pfendner</surname><given-names>Ellen G</given-names></name><degrees>PhD</degrees><aff>Director, EBDx Program\nGeneDx, Inc\nGaithersburg, Maryland</aff><email>ellen@genedx.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lucky</surname><given-names>Anne W</given-names></name><degrees>MD</degrees><aff>Director, Cincinnati Children's Epidermolysis Bullosa Center\nCincinnati Children's Hospital\nCincinnati, Ohio</aff><email>anne.lucky@cchmc.org</email></contrib></contrib-group><?date-created 20080222?><?date-updated 20181220?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ebj.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ebj.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ebj\" document-type=\"chapter\" object-id=\"ebj.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_jps\"><title>Juvenile Polyposis Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Larsen Haidle</surname><given-names>Joy</given-names></name><degrees>MS, CGC</degrees><aff>North Memorial Health Cancer Center<break/>Robbinsdale, Minnesota</aff><email>joy.larsen.haidle@northmemorial.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacFarland</surname><given-names>Suzanne P</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Division of Oncology<break/>Children's Hospital of Philadelphia;<break/>University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>macfarlands@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Howe</surname><given-names>James R</given-names></name><degrees>MD</degrees><aff>Department of Surgery<break/>University of Iowa Hospitals and Clinics<break/>Iowa City, Iowa</aff><email>james-howe@uiowa.edu</email></contrib></contrib-group><?date-created 20030513?><?date-updated 20220203?><?date-revised 20151203?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_jps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jps\" document-type=\"chapter\" object-id=\"jps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-K?><toc-entry id=\"toc_kabuki\"><title>Kabuki Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adam</surname><given-names>Margaret P</given-names></name><degrees>MD, MS, FAAP, FACMG</degrees><aff>Department of Pediatrics<break/>University of Washington<break/>Seattle, Washington</aff><email>margaret.adam@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hannibal</surname><given-names>Mark</given-names></name><degrees>MD, PhD</degrees><aff>Division of Genetics<break/>Department of Pediatrics and Communicable Diseases<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>hannibal@umich.edu</email></contrib></contrib-group><?date-created 20110901?><?date-updated 20190228?><?date-revised 20260423?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kabuki.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders<!-- {\\*\\bkmkstart_Differential_Diagnosis} --></title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kabuki.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kabuki\" document-type=\"chapter\" object-id=\"kabuki.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kagami-ogata\"><title>Kagami-Ogata Syndrome</title><subtitle content-type=\"alt-title\">Synonym: KOS14</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ogata</surname><given-names>Tsutomu</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>Hamamatsu University School of Medicine<break/>Hamamatsu, Japan</aff><email>tomogata@hama-med.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kagami</surname><given-names>Masayo</given-names></name><degrees>MD, PhD</degrees><aff>Department of Molecular Endocrinology<break/>National Research Institute for Child Health and Development<break/>Tokyo, Japan</aff><email>kagami-ms@ncchd.go.jp</email></contrib></contrib-group><?date-created 20241024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kagami-ogata.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kagami-ogata.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kagami-ogata\" document-type=\"chapter\" object-id=\"kagami-ogata.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kat6b-dis\"><title><italic toggle=\"yes\">KAT6B</italic> Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemire</surname><given-names>Gabrielle</given-names></name><degrees>MD, FRCPC</degrees><email>g.lemire-therien@umontreal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Campeau</surname><given-names>Philippe M</given-names></name><degrees>MD, FRCPC</degrees><email>p.campeau@umontreal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Brendan H</given-names></name><degrees>MD, PhD</degrees><email>blee@bcm.edu</email></contrib></contrib-group><?date-created 20121213?><?date-updated 20200102?><?date-revised 20130110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kat6b-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kat6b-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kat6b-dis\" document-type=\"chapter\" object-id=\"kat6b-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kos\"><title>Kaufman Oculocerebrofacial Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Blepharophimosis-Ptosis-Intellectual Disability (BPID) Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brabbing-Goldstein</surname><given-names>Dana</given-names></name><degrees>MD</degrees><email>danabr2@clalit.org.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Basel-Salmon</surname><given-names>Lina</given-names></name><degrees>MD, PhD</degrees><email>basel@tauex.tau.ac.il</email></contrib></contrib-group><?date-created 20161020?><?date-updated 20220728?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kos.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kos.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kos\" document-type=\"chapter\" object-id=\"kos.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kcnc1-dis\"><title><italic toggle=\"yes\">KCNC1-</italic>Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ginn</surname><given-names>Natalie</given-names></name><degrees>MGC, CGC</degrees><email>ginnn@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldberg</surname><given-names>Ethan M</given-names></name><degrees>MD, PhD</degrees><email>goldberge@chop.edu</email></contrib></contrib-group><?date-created 20251218?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kcnc1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnc1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnc1-dis\" document-type=\"chapter\" object-id=\"kcnc1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kcnk9-is\"><title><italic toggle=\"yes\">KCNK9</italic> Imprinting Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Birk-Barel Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zadeh</surname><given-names>Neda</given-names></name><degrees>MD</degrees><aff>Division of Medical Genetics<break/>CHOC Children&#x02019;s Hospital<break/>Genetics Center<break/>Orange, California</aff><email>nzadeh@choc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deardorff</surname><given-names>Matthew</given-names></name><degrees>MD, PhD</degrees><aff>Pathology and Laboratory Medicine<break/>Keck School of Medicine<break/>University of Southern California<break/>Los Angeles, California</aff><email>mdeardorff@chla.usc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cousin</surname><given-names>Margot</given-names></name><degrees>PhD</degrees><aff>Mayo Clinic<break/>Rochester, Minnesota</aff><email>cousin.margot@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Graham</surname><given-names>John M</given-names><suffix>Jr</suffix></name><degrees>MD, ScD</degrees><aff>Department of Pediatrics<break/>Harbor-UCLA Medical Center<break/>Cedars-Sinai Medical Center<break/>Torrance, California<break/>Emeritus Professor of Pediatrics, David Geffen School of Medicine at UCLA<break/>Los Angeles, California</aff><email>john.graham@cshs.org</email></contrib></contrib-group><?date-created 20170323?><?date-updated 20260611?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kcnk9-is.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnk9-is.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnk9-is\" document-type=\"chapter\" object-id=\"kcnk9-is.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bfns\"><title><italic toggle=\"yes\">KCNQ2</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miceli</surname><given-names>Francesco</given-names></name><degrees>PhD</degrees><email>frmiceli@unina.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Soldovieri</surname><given-names>Maria Virginia</given-names></name><degrees>PhD</degrees><email>mariavirginia.soldovieri@unimol.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weckhuysen</surname><given-names>Sarah</given-names></name><degrees>MD, PhD</degrees><email>sarah.weckhuysen@uantwerpen.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cooper</surname><given-names>Edward</given-names></name><degrees>MD, PhD</degrees><email>ecc1@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taglialatela</surname><given-names>Maurizio</given-names></name><degrees>MD, PhD</degrees><email>maurizio.taglialatela@unina.it</email></contrib></contrib-group><?date-created 20100427?><?date-updated 20220519?><?date-revised 20180927?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bfns.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bfns.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bfns\" document-type=\"chapter\" object-id=\"bfns.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kcnq3-dis\"><title><italic toggle=\"yes\">KCNQ3</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miceli</surname><given-names>Francesco</given-names></name><degrees>PhD</degrees><aff>Division of Pharmacology<break/>Department of Neuroscience<break/>University of Naples Federico II<break/>Naples, Italy</aff><email>frmiceli@unina.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Soldovieri</surname><given-names>Maria Virginia</given-names></name><degrees>PhD</degrees><aff>Department of Health Science<break/>University of Molise<break/>Campobasso, Italy</aff><email>mariavirginia.soldovieri@unimol.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weckhuysen</surname><given-names>Sarah</given-names></name><degrees>MD, PhD</degrees><aff>Applied &#x00026; Translational Neurogenomics Group<break/>VIB Center for Molecular Neurology<break/>University of Antwerp;<break/>Neurology Department<break/>University Hospital<break/>Antwerp, Belgium</aff><email>sarah.weckhuysen@uantwerpen.vib.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cooper</surname><given-names>Edward C</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Neurology, Neuroscience, and Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>ecc1@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taglialatela</surname><given-names>Maurizio</given-names></name><degrees>MD, PhD</degrees><aff>Division of Pharmacology<break/>Department of Neuroscience<break/>University of Naples Federico II<break/>Naples, Italy</aff><email>mtaglial@unina.it</email></contrib></contrib-group><?date-created 20140522?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kcnq3-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnq3-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnq3-dis\" document-type=\"chapter\" object-id=\"kcnq3-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy\"><title><italic toggle=\"yes\">KCNT1</italic>-Related Epilepsy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gertler</surname><given-names>Tracy</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>Ann and Robert H Lurie Children's Hospital of Chicago<break/>Chicago, Illinois</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bearden</surname><given-names>David</given-names></name><degrees>MD, MSCE</degrees><aff>Department of Neurology<break/>Division of Child Neurology<break/>University of Rochester School of Medicine<break/>Rochester, New York</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhattacharjee</surname><given-names>Arin</given-names></name><degrees>PhD</degrees><aff>Department of Pharmacology<break/>University of Buffalo<break/>Buffalo, New York</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carvill</surname><given-names>Gemma</given-names></name><degrees>PhD</degrees><aff>Department of Neurology<break/>Feinberg School of Medicine<break/>Northwestern University<break/>Chicago, Illinois</aff></contrib></contrib-group><?date-created 20180920?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kcnt1-epilepsy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kcnt1-epilepsy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kcnt1-epilepsy\" document-type=\"chapter\" object-id=\"kcnt1-epilepsy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kctd7-epilepsy\"><title><italic toggle=\"yes\">KCTD7</italic>-Related Progressive Myoclonic Epilepsy</title><subtitle content-type=\"alt-title\">Synonym: Epilepsy, Progressive Myoclonic 3, With or Without Intracellular Inclusions (EPM3)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yoganathan</surname><given-names>Sangeetha</given-names></name><degrees>MD, DM</degrees><aff>Pediatric Neurology Unit<break/>Department of Neurological Sciences<break/>Christian Medical College<break/>Vellore, Tamil Nadu, India</aff><email>doc_ys@yahoo.co.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jain</surname><given-names>Puneet</given-names></name><degrees>MD, DM</degrees><aff>Staff Physician, Division of Neurology<break/>Hospital for Sick Children;<break/>Department of Pediatrics, University of Toronto<break/>Toronto, Ontario, Canada</aff><email>puneet.jain@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Costain</surname><given-names>Gregory</given-names></name><degrees>MD, PhD, FRCPC</degrees><aff>Division of Clinical &#x00026; Metabolic Genetics<break/>Hospital for Sick Children;<break/>Department of Pediatrics<break/>University of Toronto<break/>Toronto, Ontario, Canada</aff><email>gregory.costain@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitney</surname><given-names>Robyn</given-names></name><degrees>MD, FRCPC, CSCN (EEG)</degrees><aff>Division of Neurology<break/>Department of Pediatrics<break/>McMaster University<break/>Hamilton, Ontario, Canada</aff><email>whitner@mcmaster.ca</email></contrib></contrib-group><?date-created 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kctd7-epilepsy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kctd7-epilepsy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kctd7-epilepsy\" document-type=\"chapter\" object-id=\"kctd7-epilepsy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kif1a-ndd\"><title><italic toggle=\"yes\">KIF1A</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Complex KAND, Neurodegeneration and Spasticity With or Without Cerebellar Atrophy or Cortical Visual Impairment (NESCAV) Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Wendy</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Chief, Department of Pediatrics<break/>Boston Children's Hospital;<break/>Mary Ellen Avery Professor of Pediatrics<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>wendy.chung@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boyle</surname><given-names>Lia</given-names></name><degrees>MD, PhD</degrees><aff>Resident, Department of Pediatrics and Medical Genetics<break/>University of Michigan<break/>Ann Arbor, Michigan</aff><email>liabo@med.umich.edu</email></contrib></contrib-group><?date-created 20260402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kif1a-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kif1a-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kif1a-ndd\" document-type=\"chapter\" object-id=\"kif1a-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kindler\"><title>Kindler Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Congenital Bullous Poikiloderma</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Youssefian</surname><given-names>Leila</given-names></name><degrees>PhD</degrees><email>leila.youssefian@jefferson.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vahidnezhad</surname><given-names>Hassan</given-names></name><degrees>PhD</degrees><email>hassan.vahidnezhad@jefferson.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uitto</surname><given-names>Jouni</given-names></name><degrees>MD, PhD</degrees><email>jouni.uitto@jefferson.edu</email></contrib></contrib-group><?date-created 20160303?><?date-updated 20220106?><?date-revised 20161201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kindler.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kindler.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kindler\" document-type=\"chapter\" object-id=\"kindler.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kleefstra\"><title>Kleefstra Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: 9q34.3 Microdeletion Syndrome, 9qSTDS, 9q Subtelomeric Deletion Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kleefstra</surname><given-names>Tjitske</given-names></name><degrees>MD, PhD</degrees><email>tjitske.kleefstra@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Leeuw</surname><given-names>Nicole</given-names></name><degrees>PhD</degrees><email>nicole.deleeuw@radboudumc.nl</email></contrib></contrib-group><?date-created 20101005?><?date-updated 20190321?><?date-revised 20230126?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kleefstra.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kleefstra.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kleefstra\" document-type=\"chapter\" object-id=\"kleefstra.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kmt2b-dystonia\"><title><italic toggle=\"yes\">KMT2B</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abela</surname><given-names>Lucia</given-names></name><degrees>MD, PhD</degrees><aff>Department of Child Neurology<break/>University Children's Hospital Zurich<break/>Zurich, Switzerland</aff><email>lucia.abela@kispi.uzh.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju Ann</given-names></name><degrees>MA, MBBChir, PhD</degrees><aff>Developmental Neurosciences Programme<break/>UCL-Institute of Child Health<break/>London, United Kingdom</aff><email>manju.kurian@ucl.ac.uk</email></contrib></contrib-group><?date-created 20180426?><?date-updated 20250522?><?date-revised 20220929?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kmt2b-dystonia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2b-dystonia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2b-dystonia\" document-type=\"chapter\" object-id=\"kmt2b-dystonia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kmt2e-ndd\"><title><italic toggle=\"yes\">KMT2E</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: O'Donnell-Luria-Rodan Syndrome (ODLURO)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pais</surname><given-names>Lynn</given-names></name><degrees>MSc, MS, CGC</degrees><email>lynn.pais@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rodan</surname><given-names>Lance</given-names></name><degrees>MD</degrees><email>lance.rodan@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>O'Donnell-Luria</surname><given-names>Anne</given-names></name><degrees>MD, PhD</degrees><email>anne.odonnell@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20240418?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kmt2e-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kmt2e-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kmt2e-ndd\" document-type=\"chapter\" object-id=\"kmt2e-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mdel17q21_31\"><title>Koolen-de Vries Syndrome</title><subtitle content-type=\"alt-title\">Synonym: KdVS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koolen</surname><given-names>David A</given-names></name><degrees>MD, PhD</degrees><email>david.koolen@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela</given-names></name><degrees>Prof, PhD</degrees><email>angela.morgan@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib></contrib-group><?date-created 20100126?><?date-updated 20230202?><?date-revised 20130110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdel17q21_31.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdel17q21_31.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdel17q21_31\" document-type=\"chapter\" object-id=\"mdel17q21_31.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kptn-dis\"><title><italic toggle=\"yes\">KPTN</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonym: Macrocephaly, Autistic Features, Seizures, Developmental Delay (MASD) Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rawlins</surname><given-names>Lettie E</given-names></name><degrees>BSc, MBChB, MRCP, PhD</degrees><email>l.rawlins@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crino</surname><given-names>Peter B</given-names></name><degrees>BA, MD, PhD</degrees><email>pcrino@som.umaryland.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Iffland</surname><given-names>Philip H</given-names></name><degrees>BA, MA, PhD</degrees><email>piffland@som.umaryland.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crosby</surname><given-names>Andrew H</given-names></name><degrees>BSc, PhD</degrees><email>a.h.crosby@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baple</surname><given-names>Emma L</given-names></name><degrees>BSc, MBBS, MRCPCH, PhD</degrees><email>e.baple@exeter.ac.uk</email></contrib></contrib-group><?date-created 20240801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kptn-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kptn-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kptn-dis\" document-type=\"chapter\" object-id=\"kptn-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_krabbe\"><title>Krabbe Disease</title><subtitle content-type=\"alt-title\">Synonyms: Galactocerebrosidase Deficiency, GALC Deficiency, Globoid Cell Leukodystrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Orsini</surname><given-names>Joseph J</given-names></name><degrees>PhD</degrees><email>joseph.orsini@health.ny.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Escolar</surname><given-names>Maria L</given-names></name><degrees>MD, MS</degrees><email>maria.escolar@chp.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wasserstein</surname><given-names>Melissa P</given-names></name><degrees>MD</degrees><email>mwassers@montefiore.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Caggana</surname><given-names>Michele</given-names></name><degrees>ScD</degrees><email>michele.caggana@health.ny.gov</email></contrib></contrib-group><?date-created 20000619?><?date-updated 20181011?><?date-revised 20080805?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_krabbe.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_krabbe.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"krabbe\" document-type=\"chapter\" object-id=\"krabbe.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-L?><toc-entry id=\"toc_l1cam\"><title>L1 Syndrome</title><subtitle content-type=\"alt-title\">Synonym: L1 Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stumpel</surname><given-names>Connie</given-names></name><degrees>MD, PhD</degrees><aff>Department of Clinical Genetics\nAcademic Hospital Maastricht and School for Oncology &#x00026; Developmental Biology (GROW);\nMaastricht University and University Hospital Maastricht (MUMC+)\nMaastricht, the Netherlands</aff><email>c.stumpel@mumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vos</surname><given-names>Yvonne J</given-names></name><degrees>PhD</degrees><aff>Department of Genetics\nUniversity Medical Center Groningen\nGroningen, the Netherlands</aff><email>y.j.vos@umcg.nl</email></contrib></contrib-group><?date-created 20040428?><?date-updated 20210107?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_l1cam.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_l1cam.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"l1cam\" document-type=\"chapter\" object-id=\"l1cam.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mpd1\"><title>Laing Distal Myopathy</title><subtitle content-type=\"alt-title\">Synonym: Laing Early-Onset Distal Myopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lamont</surname><given-names>Phillipa</given-names></name><degrees>MBBS, PhD</degrees><aff>Professor, Department of Neurology\nRoyal Perth Hospital\nPerth, Western Australia</aff><email>phillipa.lamont@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Laing</surname><given-names>Nigel G</given-names></name><degrees>PhD</degrees><aff>Professor, NH &#x00026; MRC Principal Research Fellow, Harry Perkins Institute for Medical Research\nUniversity of Western Australia\nNedlands, Western Australia</aff><email>nigel.laing@perkins.uwa.edu.au</email></contrib></contrib-group><?date-created 20061017?><?date-updated 20210204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mpd1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpd1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpd1\" document-type=\"chapter\" object-id=\"mpd1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mdef-cmd\"><title><italic toggle=\"yes\">LAMA2</italic> Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonym: Laminin &#x003b1;2 Chain-Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oliveira</surname><given-names>Jorge</given-names></name><degrees>MSc, PhD</degrees><email>jmoliveira@ibmc.up.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parente Freixo</surname><given-names>Jo&#x000e3;o</given-names></name><degrees>MD</degrees><email>joao.freixo@ibmc.up.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Santos</surname><given-names>Manuela</given-names></name><degrees>MD</degrees><email>manuela.a.santos@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coelho</surname><given-names>Teresa</given-names></name><degrees>MD, PhD</degrees><email>tcoelho@netcabo.pt</email></contrib></contrib-group><?date-created 20120607?><?date-updated 20200917?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mdef-cmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mdef-cmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mdef-cmd\" document-type=\"chapter\" object-id=\"mdef-cmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lathosterolosis\"><title>Lathosterolosis</title><subtitle content-type=\"alt-title\">Synonyms: Sterol C-5 Desaturase Deficiency, Sterol-C5-Desaturase Deficiency, SC5D Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prasun</surname><given-names>Pankaj</given-names></name><degrees>MD</degrees><email>drpankajprasun@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ganesh</surname><given-names>Jaya</given-names></name><degrees>MD</degrees><email>jaya.ganesh@mssm.edu</email></contrib></contrib-group><?date-created 20231207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lathosterolosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lathosterolosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lathosterolosis\" document-type=\"chapter\" object-id=\"lathosterolosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lhon\"><title>Leber Hereditary Optic Neuropathy</title><subtitle content-type=\"alt-title\">Synonyms: Leber's Disease, Leber's Hereditary Optic Neuropathy, Leber's Optic Atrophy, Leber's Optic Neuropathy, LHON</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yu-Wai-Man</surname><given-names>Patrick</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCOphth</degrees><email>py237@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chinnery</surname><given-names>Patrick F</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci</degrees><email>pfc25@cam.ac.uk</email></contrib></contrib-group><?date-created 20001026?><?date-updated 20210311?><?date-revised 20120419?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lhon.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lhon.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lhon\" document-type=\"chapter\" object-id=\"lhon.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_legius\"><title>Legius Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Neurofibromatosis Type 1-Like Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevenson</surname><given-names>David</given-names></name><degrees>MD</degrees><aff>Stanford University<break/>Stanford, California</aff><email>dasteven@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Legius</surname><given-names>Eric</given-names></name><degrees>MD, PhD</degrees><aff>University of Leuven<break/>Leuven, Belgium</aff><email>eric.legius@uzleuven.be</email></contrib></contrib-group><?date-created 20101014?><?date-updated 20251204?><?date-revised 20110512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_legius.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_legius.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"legius\" document-type=\"chapter\" object-id=\"legius.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_leukodys-ov\"><title>Leukodystrophy Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanderver</surname><given-names>Adeline</given-names></name><degrees>MD</degrees><aff>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>vandervera@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tonduti</surname><given-names>Davide</given-names></name><degrees>MD</degrees><aff>Department of Child Neurology and Psychiatry, IRCCS C<break/>Mondino Institute of Neurology Foundation<break/>Pavia, Italy</aff><email>davidetondu@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schiffmann</surname><given-names>Raphael</given-names></name><degrees>MD</degrees><aff>Institute of Metabolic Disease<break/>Baylor Research Institute<break/>Dallas, Texas</aff><email>p15099@baylorhealth.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schmidt</surname><given-names>Johanna</given-names></name><degrees>MPH, MGC, CGC</degrees><aff>Department of Neurology &#x00026; Center for Genetic Medicine Research<break/>Children's National Medical Center<break/>Washington, DC</aff><email>jloewens@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees><aff>Department of Child Neurology<break/>Vrije Universiteit Medical Center<break/>Amsterdam, Netherlands</aff><email>ms.vanderknaap@vumc.nl</email></contrib></contrib-group><?date-created 20140206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_leukodys-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Definition_of_Leukodystrophy\"><title>Definition of Leukodystrophy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Definition_of_Leukodystrophy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Clinical_Manifestations_of_L\"><title>Clinical Manifestations of Leukodystrophies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Clinical_Manifestations_of_L\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Prevalence_of_Leukodystrophi\"><title>Prevalence of Leukodystrophies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Prevalence_of_Leukodystrophi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Differential_Diagnosis_of_Le\"><title>Differential Diagnosis of Leukodystrophies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Differential_Diagnosis_of_Le\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Evaluation_Strategy_for_an_I\"><title>Evaluation Strategy for an Individual with a Leukodystrophy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Evaluation_Strategy_for_an_I\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leukodys-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leukodys-ov\" document-type=\"chapter\" object-id=\"leukodys-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lbsl\"><title>Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation</title><subtitle content-type=\"alt-title\">Synonyms: LBSL, Mitochondrial Aspartyl-tRNA Synthetase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Engelen</surname><given-names>Marc</given-names></name><degrees>MD, PhD</degrees><email>m.engelen@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abbink</surname><given-names>Truus EM</given-names></name><degrees>PhD</degrees><email>g.abbink@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salomons</surname><given-names>Gajja S</given-names></name><degrees>PhD</degrees><email>g.salomons@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees><email>ms.vanderknaap@amsterdamumc.nl</email></contrib></contrib-group><?date-created 20100525?><?date-updated 20210218?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lbsl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lbsl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lbsl\" document-type=\"chapter\" object-id=\"lbsl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_li-fraumeni\"><title>Li-Fraumeni Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schneider</surname><given-names>Katherine</given-names></name><degrees>MPH</degrees><email>katherine_schneider@dfci.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zelley</surname><given-names>Kristin</given-names></name><degrees>MS, LGC</degrees><email>zelleyk@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nichols</surname><given-names>Kim E</given-names></name><degrees>MD</degrees><email>kim.nichols@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schwartz Levine</surname><given-names>Alison</given-names></name><degrees>MS, CGC</degrees><email>alison_schwartz@dfci.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Garber</surname><given-names>Judy</given-names></name><degrees>MD, MPH</degrees><email>judy_garber@dfci.harvard.edu</email></contrib></contrib-group><?date-created 19990119?><?date-updated 20240905?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_li-fraumeni.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_li-fraumeni.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"li-fraumeni\" document-type=\"chapter\" object-id=\"li-fraumeni.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lgmd-overview\"><title>Limb-Girdle Muscular Dystrophy Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><subtitle content-type=\"alt-title\">Synonym: LGMD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pegoraro</surname><given-names>Elena</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurosciences<break/>University of Padova<break/>Padova, Italy</aff><email>elena.pegoraro@unipd.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoffman</surname><given-names>Eric P</given-names></name><degrees>PhD</degrees><aff>Research Center for Genetic Medicine<break/>Children's National Medical Center<break/>Washington, DC</aff><email>ehoffman@childrens-research.org</email></contrib></contrib-group><?date-created 20000608?><?date-updated 20120830?><?date-revised 20090723?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lgmd-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Definition\"><title>Definition</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Definition\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Causes\"><title>Causes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Causes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Evaluation_Strategy\"><title>Evaluation Strategy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Evaluation_Strategy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lgmd-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lgmd-overview\" document-type=\"chapter\" object-id=\"lgmd-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lipoid-p\"><title>Lipoid Proteinosis</title><subtitle content-type=\"alt-title\">Synonyms: Hyalinosis Cutis et Mucosae, Urbach-Wiethe Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vahidnezhad</surname><given-names>Hassan</given-names></name><degrees>PhD</degrees><email>hassan_vahidnezhad@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Youssefian</surname><given-names>Leila</given-names></name><degrees>PhD</degrees><email>leila.youssefian@jefferson.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uitto</surname><given-names>Jouni</given-names></name><degrees>MD, PhD</degrees><email>jouni.uitto@jefferson.edu</email></contrib></contrib-group><?date-created 20160121?><?date-updated 20210722?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lipoid-p.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lipoid-p.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lipoid-p\" document-type=\"chapter\" object-id=\"lipoid-p.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dcm-lmna\"><title><italic toggle=\"yes\">LMNA</italic>-Related Dilated Cardiomyopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hershberger</surname><given-names>Ray E</given-names></name><degrees>MD</degrees><aff>Professor of Medicine, Divisions of Human Genetics and Cardiovascular Medicine\nThe Ohio State University\nColumbus, Ohio</aff><email>ray.hershberger@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jordan</surname><given-names>Elizabeth</given-names></name><degrees>MMSc, CGC</degrees><aff>Assistant Professor, Division of Human Genetics\nThe Ohio State University\nColumbus, Ohio</aff><email>elizabeth.jordan@osumc.edu</email></contrib></contrib-group><?date-created 20080612?><?date-updated 20220317?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dcm-lmna.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dcm-lmna.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dcm-lmna\" document-type=\"chapter\" object-id=\"dcm-lmna.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lad-ad\"><title><italic toggle=\"yes\">LMNB1</italic>-Related Autosomal Dominant Leukodystrophy</title><subtitle content-type=\"alt-title\">Synonyms: Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms, Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy, Autosomal Dominant Leukodystrophy with Autonomic Symptoms, <italic toggle=\"yes\">LMNB1</italic>-Related ADLD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raininko</surname><given-names>Raili</given-names></name><degrees>MD, PhD</degrees><email>raili.raininko@radiol.uu.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gosky</surname><given-names>Michael</given-names></name><degrees>BS, MS</degrees><email>mdg75@pitt.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Padiath</surname><given-names>Quasar S</given-names></name><degrees>MBBS, PhD</degrees><email>qpadiath@pitt.edu</email></contrib></contrib-group><?date-created 20160107?><?date-updated 20210715?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lad-ad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lad-ad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lad-ad\" document-type=\"chapter\" object-id=\"lad-ad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_loeys-dietz\"><title>Loeys-Dietz Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Loeys-Dietz Aortic Aneurysm Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Loeys</surname><given-names>Bart L</given-names></name><degrees>MD, PhD</degrees><aff>Center of Medical Genetics<break/>Antwerp University Hospital<break/>Antwerp, Belgium</aff><email>bart.loeys@uantwerp.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dietz</surname><given-names>Harry C</given-names></name><degrees>MD</degrees><aff>Victor A McKusick Professor of Medicine and Genetics<break/>Department of Genetic Medicine<break/>Departments of Pediatrics, Medicine, and Molecular Biology and Genetics<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>hdietz@jhmi.edu</email></contrib></contrib-group><?date-created 20080228?><?date-updated 20240912?><?date-revised 20080429?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_loeys-dietz.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_loeys-dietz.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"loeys-dietz\" document-type=\"chapter\" object-id=\"loeys-dietz.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lchad\"><title>Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency&#x000a0;/ Trifunctional Protein Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prasun</surname><given-names>Pankaj</given-names></name><degrees>MD</degrees><email>pankaj.prasun@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>LoPiccolo</surname><given-names>Mary Kate</given-names></name><degrees>MD</degrees><email>mary.lopiccolo@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ginevic</surname><given-names>Ilona</given-names></name><degrees>RD</degrees><email>Ilona.ginevic@mssm.edu</email></contrib></contrib-group><?date-created 20220901?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lchad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lchad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lchad\" document-type=\"chapter\" object-id=\"lchad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rws\"><title>Long QT Syndrome Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Groffen</surname><given-names>Alexander J</given-names></name><degrees>PhD</degrees><email>a.groffen@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bikker</surname><given-names>Hennie</given-names></name><degrees>PhD</degrees><email>h.bikker@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christiaans</surname><given-names>Imke</given-names></name><degrees>PhD, MD</degrees><email>i.christiaans@umcg.nl</email></contrib></contrib-group><?date-created 20030220?><?date-updated 20240321?><?date-revised 20090804?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rws.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Clinical_Characteristics_of_Long_QT\"><title> Clinical Characteristics of Long QT Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Clinical_Characteristics_of_Long_QT\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Genetic_Causes_of_Long_QT_Syndrome\"><title> Genetic Causes of Long QT Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Genetic_Causes_of_Long_QT_Syndrome\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Differential_Diagnosis_of_Long_QT_Sy\"><title> Differential Diagnosis of Long QT Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Differential_Diagnosis_of_Long_QT_Sy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Long QT Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Genetic_Risk_Assessment_and_Evaluati\"><title> Genetic Risk Assessment and Evaluations of At-Risk Relatives for Early Detection and Treatment of Long QT Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Genetic_Risk_Assessment_and_Evaluati\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rws.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rws\" document-type=\"chapter\" object-id=\"rws.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lowe\"><title>Lowe Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Oculocerebrorenal Syndrome, Oculocerebrorenal Syndrome of Lowe</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lewis</surname><given-names>Richard Alan</given-names></name><degrees>MD, MS</degrees><aff>Professor, Departments of Molecular and Human Genetics, Ophthalmology, Medicine, and Pediatrics\nBaylor College of Medicine\nHouston, Texas</aff><email>rlewis@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nussbaum</surname><given-names>Robert L</given-names></name><degrees>MD</degrees><aff>Chief Medical Officer, Invitae Corporation\nSan Francisco, California</aff><email>robert.nussbaum@invitae.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brewer</surname><given-names>Eileen D</given-names></name><degrees>MD</degrees><aff>Professor, Pediatric Renal Section\nBaylor College of Medicine\nMedical Director, Renal Transplantation\nTexas Children's Hospital\nHouston, Texas</aff><email>ebrewer@bcm.edu</email></contrib></contrib-group><?date-created 20010724?><?date-updated 20190418?><?date-revised 20190104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lowe.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lowe.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lowe\" document-type=\"chapter\" object-id=\"lowe.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lpin2-majeed\"><title><italic toggle=\"yes\">LPIN2</italic>-Related Majeed Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Narayanan</surname><given-names>Dhanya Lakshmi</given-names></name><degrees>MD, DM</degrees><email>dhanya.lakshmi@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gogineni</surname><given-names>Kishore Sai</given-names></name><degrees>MSc</degrees><email>kishoresai88@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Badiger</surname><given-names>Vaishnavi Ashok</given-names></name><degrees>MSc</degrees><email>badigervaishnavi2@gmail.com</email></contrib></contrib-group><?date-created 20230302?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lpin2-majeed.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpin2-majeed.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpin2-majeed\" document-type=\"chapter\" object-id=\"lpin2-majeed.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lrrk2\"><title><italic toggle=\"yes\">LRRK2-</italic>Related Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonym: PARK-<italic toggle=\"yes\">LRRK2</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wise</surname><given-names>Adina</given-names></name><degrees>MD</degrees><email>adina.wise@mountsinai.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raymond</surname><given-names>Deborah</given-names></name><degrees>MS</degrees><email>deborah.raymond@mountsinai.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saunders-Pullman</surname><given-names>Rachel</given-names></name><degrees>MD, MPH</degrees><email>rachel.saunders-pullman@mountsinai.org</email></contrib></contrib-group><?date-created 20061102?><?date-updated 20251204?><?date-revised 20230706?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lrrk2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lrrk2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lrrk2\" document-type=\"chapter\" object-id=\"lrrk2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa\"><title><italic toggle=\"yes\">LTBP4</italic>-Related Cutis Laxa</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive Cutis Laxa Type 1C (ARCL1C), Urban-Rifkin-Davis Syndrome (URDS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Callewaert</surname><given-names>Bert L</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Ghent University Hospital<break/>Ghent, Belgium</aff><email>bert.callewaert@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Urban</surname><given-names>Zsolt</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>University of Pittsburgh Graduate School of Public Health<break/>Pittsburgh, Pennsylvania</aff><email>urbanz@pitt.edu</email></contrib></contrib-group><?date-created 20160211?><?date-updated 20210722?><?date-revised 20230223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ltbp4-cutis-laxa.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ltbp4-cutis-laxa.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ltbp4-cutis-laxa\" document-type=\"chapter\" object-id=\"ltbp4-cutis-laxa.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lds\"><title>Lymphedema-Distichiasis Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mansour</surname><given-names>Sahar</given-names></name><degrees>FRCP</degrees><aff>Consultant Geneticist, SW Thames Regional Genetics Department<break/>St George's, University of London<break/>London, United Kingdom</aff><email>smansour@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brice</surname><given-names>Glen W</given-names></name><degrees>RGN, BSc (Hons)</degrees><aff>SW Thames Regional Genetics Department<break/>St George's, University of London<break/>London, United Kingdom</aff><email>gbrice@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jeffery</surname><given-names>Steve</given-names></name><degrees>PhD</degrees><aff>Division of Medical Genetics<break/>St George's, University of London<break/>London, United Kingdom</aff><email>sggt100@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mortimer</surname><given-names>Peter</given-names></name><degrees>MD, FRCP</degrees><aff>Department of Cardiac and Vascular Sciences (Dermatology)<break/>St George's, University of London<break/>London, United Kingdom</aff><email>mortimer@sgul.ac.uk</email></contrib></contrib-group><?date-created 20050329?><?date-updated 20190404?><?date-revised 20070104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lds\" document-type=\"chapter\" object-id=\"lds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hnpcc\"><title>Lynch Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Idos</surname><given-names>Gregory</given-names></name><degrees>MD, MS</degrees><email>gidos@coh.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valle</surname><given-names>Laura</given-names></name><degrees>PhD</degrees><email>lvalle@idibell.cat</email></contrib></contrib-group><?date-created 20040205?><?date-updated 20210204?><?date-revised 20180412?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hnpcc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hnpcc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hnpcc\" document-type=\"chapter\" object-id=\"hnpcc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lpi\"><title>Lysinuric Protein Intolerance</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nunes</surname><given-names>Virginia</given-names></name><degrees>PhD</degrees><aff>Professor of Genetics, Genetics Unit<break/>Physiological Sciences<break/>Faculty of Medicine &#x02013; Bellvitge Campus<break/>University of Barcelona<break/>Senior Investigator, Molecular Genetics Laboratory<break/>Instituto de Investigaci&#x000f3;n Biom&#x000e9;dica de Bellvitge<break/>Coordinator of the Genes Disease and Therapy Program at IDIBELL<break/>Chief, Centro de Investigaci&#x000f3;n Biom&#x000e9;dica en Red de Enfermedades Raras U730<break/>Barcelona, Spain</aff><email>vnunes@ub.edu</email><email>vnunes@idibell.cat</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Niinikoski</surname><given-names>Harri</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Nutrition in Medicine<break/>University of Turku<break/>Pediatric Endocrinologist<break/>Turku University Hospital<break/>Turku, Finland</aff><email>harri.niinikoski@tyks.fi</email></contrib></contrib-group><?date-created 20061221?><?date-updated 20180412?><?date-revised 20111013?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lpi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lpi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lpi\" document-type=\"chapter\" object-id=\"lpi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lal-def\"><title>Lysosomal Acid Lipase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Acid Lipase Deficiency, LAL Deficiency (LAL-D)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balwani</surname><given-names>Manisha</given-names></name><degrees>MD, MS</degrees><aff>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>manisha.balwani@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vijay</surname><given-names>Suresh</given-names></name><degrees>FRCPCH</degrees><aff>Birmingham Children's Hospital<break/>NHS Foundation Trust<break/>Birmingham, United Kingdom</aff><email>suresh.vijay1@nhs.net</email></contrib></contrib-group><?date-created 20150730?><?date-updated 20260115?><?date-revised 20160901?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lal-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lal-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lal-def\" document-type=\"chapter\" object-id=\"lal-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_schwann\"><title><italic toggle=\"yes\">LZTR1</italic>- and <italic toggle=\"yes\">SMARCB1</italic>-Related Schwannomatosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dhamija</surname><given-names>Radhika</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics and Neurology<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>dhamija.radhika@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Plotkin</surname><given-names>Scott</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Harvard Medical School;<break/>Massachusetts General Hospital<break/>Boston, Massachusetts</aff><email>splotkin@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gomes</surname><given-names>Alicia</given-names></name><degrees>MS, LCGC</degrees><aff>Department of Clinical and Diagnostics Sciences<break/>University of Alabama at Birmingham<break/>Birmingham, Alabama</aff><email>agomes@uabmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Babovic-Vuksanovic</surname><given-names>Dusica</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>dbabovic@mayo.edu</email></contrib></contrib-group><?date-created 20180308?><?date-updated 20230727?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_schwann.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schwann.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schwann\" document-type=\"chapter\" object-id=\"schwann.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-M?><toc-entry id=\"toc_mf-dys-mic\"><title>Mandibulofacial Dysostosis with Microcephaly</title><subtitle content-type=\"alt-title\">Synonym: Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA), <italic toggle=\"yes\">EFTUD2</italic>-Related Mandibulofacial Dysostosis with Microcephaly (Guion-Almeida Type)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lines</surname><given-names>Matthew</given-names></name><degrees>MD</degrees><email>matthew.lines@albertahealthservices.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hartley</surname><given-names>Taila</given-names></name><degrees>MSc</degrees><email>thartley@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Stella K</given-names></name><degrees>BSc</degrees><email>smacdonald@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boycott</surname><given-names>Kym M</given-names></name><degrees>PhD, MD</degrees><email>kboycott@cheo.on.ca</email></contrib></contrib-group><?date-created 20140703?><?date-updated 20201112?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mf-dys-mic.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mf-dys-mic.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mf-dys-mic\" document-type=\"chapter\" object-id=\"mf-dys-mic.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_msud\"><title>Maple Syrup Urine Disease</title><subtitle content-type=\"alt-title\">Synonyms: BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Strauss</surname><given-names>Kevin A</given-names></name><degrees>MD</degrees><email>kstrauss@clinicforspecialchildren.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Puffenberger</surname><given-names>Erik G</given-names></name><degrees>PhD</degrees><email>epuffenberger@clinicforspecialchildren.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carson</surname><given-names>Vincent J</given-names></name><degrees>MD</degrees><email>vcarson@clinicforspecialchildren.org</email></contrib></contrib-group><?date-created 20060130?><?date-updated 20200423?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_msud.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_msud.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"msud\" document-type=\"chapter\" object-id=\"msud.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ftdp-17\"><title><italic toggle=\"yes\">MAPT-</italic>Related Frontotemporal Dementia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rohrer</surname><given-names>Jonathan</given-names></name><degrees>FRCP, PhD</degrees><aff>Professor of Neurology, UCL Queen Square Institute of Neurology<break/>London, United Kingdom</aff><email>j.rohrer@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ryan</surname><given-names>Brigid</given-names></name><degrees>PhD</degrees><aff>Research Fellow, Centre for Brain Research and Department of Anatomy and Medical Imaging<break/>University of Auckland<break/>Auckland, New Zealand</aff><email>b.ryan@auckland.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahmed</surname><given-names>Rebekah</given-names></name><degrees>FRACP, PhD</degrees><aff>Clinical Associate Professor and NHMRC Early Career Fellow, Sydney Medical School<break/>University of Sydney<break/>Sydney, Australia</aff><email>rebekah.ahmed@sydney.edu.au</email></contrib></contrib-group><?date-created 20001107?><?date-updated 20220818?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ftdp-17.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ftdp-17.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ftdp-17\" document-type=\"chapter\" object-id=\"ftdp-17.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mss\"><title>Marinesco-Sj&#x000f6;gren Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anttonen</surname><given-names>Anna-Kaisa</given-names></name><degrees>MD, PhD</degrees><aff>Medical and Clinical Genetics<break/>University of Helsinki and Helsinki University Hospital<break/>Helsinki, Finland</aff><email>anna-kaisa.anttonen@hus.fi</email></contrib></contrib-group><?date-created 20061129?><?date-updated 20241003?><?date-revised 20081007?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mss\" document-type=\"chapter\" object-id=\"mss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dup15q\"><title>Maternal 15q Duplication Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lusk</surname><given-names>Laina</given-names></name><degrees>MMSc, CGC</degrees><aff>Children&#x02019;s Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>luskl@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vogel-Farley</surname><given-names>Vanessa</given-names></name><degrees>BA</degrees><aff>Dup15q Alliance<break/>Highland Park, Illinois</aff><email>vanessa.vogelfarley@dup15q.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>DiStefano</surname><given-names>Charlotte</given-names></name><degrees>PhD</degrees><aff>University of California Los Angeles<break/>Los Angeles, California</aff><email>cdistefano@mednet.ucla.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jeste</surname><given-names>Shafali</given-names></name><degrees>MD</degrees><aff>Chief of Neurology<break/>Children's Hospital Los Angeles<break/>Los Angeles, California</aff><email>sjeste@chla.usc.edu</email></contrib></contrib-group><?date-created 20160616?><?date-updated 20210715?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dup15q.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dup15q.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dup15q\" document-type=\"chapter\" object-id=\"dup15q.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mlid-maternal\"><title>Maternal Effect Gene-Related Multilocus Imprinting Disturbances</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>T&#x000fc;mer</surname><given-names><?break?>Zeynep</given-names></name><degrees>MD, PhD, DMSc</degrees><email>zeynep.tumer@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eggermann</surname><given-names>Thomas</given-names></name><degrees>PhD</degrees><email>teggermann@ukaachen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Maas</surname><given-names>Saskia</given-names></name><degrees>MD</degrees><email>s.m.maas@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bliek</surname><given-names>Jet</given-names></name><degrees>PhD</degrees><email>j.bliek@amc.uva.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mackay</surname><given-names>Deborah</given-names></name><degrees>PhD</degrees><email>djgm@soton.ac.uk</email></contrib></contrib-group><?date-created 20250515?><?date-revised 20250828?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mlid-maternal.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Genomic_Imprinting\"><title> Genomic Imprinting</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Genomic_Imprinting\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Review_of_Imprinting_Disor\"><title> Review of Imprinting Disorders in Which Multilocus Imprinting Disturbances Have Been Observed</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Review_of_Imprinting_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Genes_of_Interest_in_Mater\"><title> Genes of Interest in Maternal Effect Gene-Related Multilocus Imprinting Disturbances</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Genes_of_Interest_in_Mater\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Evaluation_Strategies_to_I\"><title>\n<!-- {\\*\\bkmkstart_Hlk156998694} -->Evaluation Strategies to Identify the Genetic Cause of Maternal Effect Gene-Related Multilocus Imprinting Disturbances in a Family</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Evaluation_Strategies_to_I\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlid-maternal.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlid-maternal\" document-type=\"chapter\" object-id=\"mlid-maternal.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mody-ov\"><title>Maturity-Onset Diabetes of the Young Overview</title><subtitle content-type=\"alt-title\">Synonym: MODY Overview</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Naylor</surname><given-names>Rochelle</given-names></name><degrees>MD</degrees><email>rnaylor@bsd.uchicago.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knight Johnson</surname><given-names>Amy</given-names></name><degrees>MS, CGC</degrees><email>aknightjohnson@bsd.uchicago.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>del Gaudio</surname><given-names>Daniela</given-names></name><degrees>PhD</degrees><email>ddelgaudio@bsd.uchicago.edu</email></contrib></contrib-group><?date-created 20180524?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mody-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Clinical_Characteristics_of_MODY\"><title> Clinical Characteristics of MODY</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Clinical_Characteristics_of_MODY\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Genetic_Causes_of_MODY\"><title> Genetic Causes of MODY</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Genetic_Causes_of_MODY\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Evaluation_Strategy_to_Identify\"><title> Evaluation Strategy to Identify the Genetic Cause of MODY in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Evaluation_Strategy_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Management_of_MODY_Based_on_Gene\"><title> Management of MODY Based on Genetic Cause</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Management_of_MODY_Based_on_Gene\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Risk_Assessment_and_Surveillance\"><title> Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of MODY</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Risk_Assessment_and_Surveillance\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mody-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mody-ov\" document-type=\"chapter\" object-id=\"mody-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mbd5-dis\"><title><italic toggle=\"yes\">MBD5</italic> Haploinsufficiency</title><subtitle content-type=\"alt-title\">Synonym: 2q23.1 Microdeletion Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mullegama</surname><given-names>Sureni V</given-names></name><degrees>PhD</degrees><email>svm013@shsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mendoza-Londono</surname><given-names>Roberto</given-names></name><degrees>MD</degrees><email>roberto.mendoza@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Elsea</surname><given-names>Sarah H</given-names></name><degrees>PhD</degrees><email>elsea@bcm.edu</email></contrib></contrib-group><?date-created 20161027?><?date-updated 20220428?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mbd5-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbd5-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbd5-dis\" document-type=\"chapter\" object-id=\"mbd5-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mbtps1-semd\"><title><italic toggle=\"yes\">MBTPS1</italic>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes</title><subtitle content-type=\"alt-title\">Synonym: Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Hua</given-names></name><degrees>MD, PhD</degrees><aff>School of Medicine<break/>Loma Linda University<break/>Loma Linda, California</aff><email>huawang@llu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wierenga</surname><given-names>Andrea</given-names></name><degrees>PhD</degrees><aff>SIVOTEC Bioinformatics<break/>Boca Raton, Florida</aff><email>awierenga@gena.tech</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prabhu</surname><given-names>Sandeep</given-names></name><degrees>MD</degrees><aff>Department of Radiology<break/>University of Oklahoma<break/>Oklahoma City, Oklahoma</aff><email>sandeep-prabhu@ouhsc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wierenga</surname><given-names>Klaas</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic Florida<break/>Jacksonville, Florida</aff><email>wierenga.klaas@mayo.edu</email></contrib></contrib-group><?date-created 20231130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mbtps1-semd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mbtps1-semd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mbtps1-semd\" document-type=\"chapter\" object-id=\"mbtps1-semd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mkks\"><title>McKusick-Kaufman Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Slavotinek</surname><given-names>Anne M</given-names></name><degrees>MB, BS, PhD</degrees><aff>Department of Pediatrics<break/>University of California, San Francisco<break/>San Francisco, California</aff><email>anne.slavotinek@ucsf.edu</email></contrib></contrib-group><?date-created 20020910?><?date-updated 20201203?><?date-revised 20091008?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mkks.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mkks.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mkks\" document-type=\"chapter\" object-id=\"mkks.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mcleod\"><title>McLeod Neuroacanthocytosis Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jung</surname><given-names>Hans H</given-names></name><degrees>MD</degrees><aff>Department of Neurology\nUniversity Hospital Zurich\nZurich, Switzerland</aff><email>hans.jung@usz.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Danek</surname><given-names>Adrian</given-names></name><degrees>MD</degrees><aff>Department of Neurology\nUniversity Hospital LMU Munich\nMunich, Germany</aff><email>danek@lmu.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Walker</surname><given-names>Ruth H</given-names></name><degrees>MD,ChB, PhD</degrees><aff>Department of Neurology\nVeterans Affairs Medical Center\nBronx, New York</aff><email>ruth.walker@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Frey</surname><given-names>Beat M</given-names></name><degrees>MD</degrees><aff>Blood Transfusion Service\nSwiss Red Cross\nSchlieren/Z&#x000fc;rich, Switzerland</aff><email>bm.frey@zhbsd.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Peikert</surname><given-names>Kevin</given-names></name><degrees>MD</degrees><aff>Translational Neurodegeneration Section \"Albrecht-Kossel\"\nDepartment of Neurology\nUniversity Medical Center Rostock\nRostock, Germany</aff><email>kevin.peikert@med.uni-rostock.de</email></contrib></contrib-group><?date-created 20041203?><?date-updated 20210916?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mcleod.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcleod.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcleod\" document-type=\"chapter\" object-id=\"mcleod.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mcm8-mcm9\"><title><italic toggle=\"yes\">MCM8</italic>/<italic toggle=\"yes\">MCM9</italic>-Related Syndromes</title><subtitle content-type=\"alt-title\">Synonyms: MCM8 Deficiency Syndrome, MCM9 Deficiency Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Helderman</surname><given-names>Noah C</given-names></name><degrees>MD, PhD</degrees><email>n.c.helderman@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ben Yahia</surname><given-names>Salwa</given-names></name><degrees>MD</degrees><email>s.ben_yahia@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rajkovic</surname><given-names>Aleksandar</given-names></name><degrees>MD, PhD</degrees><email>aleks.rajkovic@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldberg</surname><given-names>Yael</given-names></name><degrees>MD</degrees><email>yaelgo43@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nielsen</surname><given-names>Maartje</given-names></name><degrees>MD, PhD</degrees><email>m.nielsen@lumc.nl</email></contrib></contrib-group><?date-created 20260616?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mcm8-mcm9.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcm8-mcm9.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcm8-mcm9\" document-type=\"chapter\" object-id=\"mcm8-mcm9.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rett\"><title><italic toggle=\"yes\">MECP2</italic> Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaur</surname><given-names>Simranpreet</given-names></name><degrees>MSc, M Phil</degrees><aff>Brain and Mitochondrial Research Group<break/>Murdoch Children&#x02019;s Research Institute;<break/>Department of Paediatrics<break/>University of Melbourne<break/>Parkville, Victoria, Australia</aff><email>simran.kaur@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christodoulou</surname><given-names>John</given-names></name><degrees>MBBS, PhD, FRACP, FFSc, FRCPA, FAHMS</degrees><aff>Professor, Pediatrics and Biochemical, Molecular, and Human Genetics<break/>Theme Director, Genetics Research<break/>Murdoch Children&#x02019;s Research Institute;<break/>Chair of Genomic Medicine, Department of Pediatrics<break/>University of Melbourne<break/>Melbourne, Victoria, Australia</aff><email>john.christodoulou@mcri.edu.au</email></contrib></contrib-group><?date-created 20011003?><?date-updated 20190919?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rett.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rett.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rett\" document-type=\"chapter\" object-id=\"rett.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mecp2-dup\"><title><italic toggle=\"yes\">MECP2</italic> Duplication Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Esch</surname><given-names>Hilde</given-names></name><degrees>MD, PhD</degrees><aff>Center for Human Genetics<break/>University Hospitals Leuven<break/>Leuven, Belgium</aff><email>hilde.vanesch@uzleuven.be</email></contrib></contrib-group><?date-created 20080118?><?date-updated 20200521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mecp2-dup.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecp2-dup.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecp2-dup\" document-type=\"chapter\" object-id=\"mecp2-dup.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mecr-dis\"><title><italic toggle=\"yes\">MECR</italic>-Related Neurologic Disorder</title><subtitle content-type=\"alt-title\">Synonym: Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Heimer</surname><given-names>Gali</given-names></name><degrees>MD, PhD</degrees><email>galih.md@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS</degrees><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hogarth</surname><given-names>Penelope</given-names></name><degrees>MD</degrees><email>hogarthp@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan</given-names></name><degrees>MD</degrees><email>hayflick@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ben Zeev</surname><given-names>Bruria</given-names></name><degrees>MD, Prof</degrees><email>bruria.benzeev@sheba.health.gov.il</email></contrib></contrib-group><?date-created 20190509?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mecr-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mecr-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mecr-dis\" document-type=\"chapter\" object-id=\"mecr-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fg\"><title><italic toggle=\"yes\">MED12</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lyons</surname><given-names>Michael J</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Associate Clinical Geneticist, Greenwood Genetic Center<break/>Charleston, South Carolina</aff><email>mlyons@ggc.org</email></contrib></contrib-group><?date-created 20080623?><?date-updated 20210812?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fg.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fg.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fg\" document-type=\"chapter\" object-id=\"fg.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_med13l\"><title><italic toggle=\"yes\">MED13L</italic> Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">MED13L</italic> Haploinsufficiency Syndrome, <italic toggle=\"yes\">MED13L</italic>-Related Intellectual Disability</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Campbell</surname><given-names>Alicia Nicole</given-names></name><degrees>PhD</degrees><email>campbe26@rowan.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bain</surname><given-names>Jennifer</given-names></name><degrees>MD, PhD</degrees><email>Jb3634@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Doyle</surname><given-names>Steven James</given-names></name><degrees>PhD, DO</degrees><email>doyles5@rowan.edu</email></contrib></contrib-group><?date-created 20250410?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_med13l.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_med13l.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"med13l\" document-type=\"chapter\" object-id=\"med13l.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mcad\"><title>Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: MCAD Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chang</surname><given-names>Irene J</given-names></name><degrees>MD, MSc</degrees><aff>Assistant Professor<break/>University of California at San Francisco<break/>San Francisco, California</aff><email>irene.chang@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lam</surname><given-names>Christina</given-names></name><degrees>MD</degrees><aff>Associate Professor<break/>University of Washington;<break/>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>christina.lam@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vockley</surname><given-names>Jerry</given-names></name><degrees>MD, PhD</degrees><aff>Professor<break/>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>vockleyg@upmc.edu</email></contrib></contrib-group><?date-created 20000420?><?date-updated 20240926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mcad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mcad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mcad\" document-type=\"chapter\" object-id=\"mcad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mef2c-dis\"><title><italic toggle=\"yes\">MEF2C</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: MEF2C Deficiency; <italic toggle=\"yes\">MEF2C</italic> Haploinsufficiency Syndrome (MCHS); <italic toggle=\"yes\">MEF2C</italic>-Related Neurodevelopmental Disorder; <italic toggle=\"yes\">MEF2C</italic>-Related Syndrome; Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language (NEDHSIL)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cooley Coleman</surname><given-names>Jessica</given-names></name><degrees>PhD</degrees><email>jcoleman@ggc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Skinner</surname><given-names>Steven A</given-names></name><degrees>MD</degrees><email>sas@ggc.org</email></contrib></contrib-group><?date-created 20241212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mef2c-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mef2c-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mef2c-dis\" document-type=\"chapter\" object-id=\"mef2c-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mmihs-ov\"><title>Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview</title><subtitle content-type=\"alt-title\">Synonyms: Berdon Syndrome, MMHS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ambartsumyan</surname><given-names>Lusine</given-names></name><degrees>MD</degrees><aff>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>lusine.ambartsumyan@seattlechildrens.org</email></contrib></contrib-group><?date-created 20190509?><?date-updated 20240801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mmihs-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Clinical_Characteristics_of_Meg\"><title> Clinical Characteristics of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Clinical_Characteristics_of_Meg\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Genetic_Causes_of_MegacystisMic\"><title> Genetic Causes of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Genetic_Causes_of_MegacystisMic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Evaluation_Strategy_to_Identify\"><title> Evaluation Strategy to Identify the Genetic Cause of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Evaluation_Strategy_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Management_of_MegacystisMicroco\"><title> Management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Management_of_MegacystisMicroco\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Genetic_Counseling_of_Family_Me\"><title> Genetic Counseling of Family Members of an Individual with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Genetic_Counseling_of_Family_Me\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mmihs-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mmihs-ov\" document-type=\"chapter\" object-id=\"mmihs-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mlc\"><title>Megalencephalic Leukoencephalopathy with Subcortical Cysts</title><subtitle content-type=\"alt-title\">Synonym: Van der Knaap Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Min</surname><given-names>Rogier</given-names></name><degrees>PhD</degrees><email>r.min@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abbink</surname><given-names>Truus EM</given-names></name><degrees>PhD</degrees><email>g.abbink@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><degrees>MD, PhD</degrees><email>ms.vanderknaap@amsterdamumc.nl</email></contrib></contrib-group><?date-created 20030811?><?date-updated 20230727?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mlc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mlc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mlc\" document-type=\"chapter\" object-id=\"mlc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_melas\"><title>MELAS</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>malmannai@kfmc.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>fscaglia@bcm.edu</email></contrib></contrib-group><?date-created 20010227?><?date-updated 20181129?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_melas.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_melas.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"melas\" document-type=\"chapter\" object-id=\"melas.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_merrf\"><title>MERRF</title><subtitle content-type=\"alt-title\">Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Velez-Bartolomei</surname><given-names>Frances</given-names></name><degrees>MD</degrees><email>fvelez@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Chung</given-names></name><degrees>MD</degrees><email>chunglee@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Enns</surname><given-names>Gregory</given-names></name><degrees>MB, ChB</degrees><email>genns@stanford.edu</email></contrib></contrib-group><?date-created 20030603?><?date-updated 20210107?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_merrf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_merrf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"merrf\" document-type=\"chapter\" object-id=\"merrf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmt2a\"><title><italic toggle=\"yes\">MFN2</italic> Hereditary Motor and Sensory Neuropathy</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">MFN2</italic> Charcot-Marie-Tooth Neuropathy, <italic toggle=\"yes\">MFN2</italic>-HMSN</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Z&#x000fc;chner</surname><given-names>Stephan</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>University of Miami Miller School of Medicine<break/>Miami, Florida</aff><email>szuchner@med.miami.edu</email></contrib></contrib-group><?date-created 20050218?><?date-updated 20200514?><?date-revised 20250327?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmt2a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt2a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt2a\" document-type=\"chapter\" object-id=\"cmt2a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mopd2\"><title>Microcephalic Osteodysplastic Primordial Dwarfism Type II</title><subtitle content-type=\"alt-title\">Synonyms: Majewski Osteodysplastic Primordial Dwarfism Type II, MOPDII, <italic toggle=\"yes\">PCNT</italic>-Related Microcephalic Osteodysplastic Primordial Dwarfism</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duker</surname><given-names>Angela</given-names></name><degrees>MS</degrees><aff>Nemours Children's Health<break/>Wilmington, Delaware</aff><email>aduker@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jackson</surname><given-names>Andrew</given-names></name><degrees>MBBS, PhD</degrees><aff>MRC Institute of Genetics and Cancer<break/>University of Edinburgh<break/>Edinburgh, United Kingdom</aff><email>andrew.jackson@ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bober</surname><given-names>Michael B</given-names></name><degrees>MD, PhD</degrees><aff>Nemours Children&#x02019;s Health<break/>Wilmington, Delaware</aff><email>mbober@nemours.org</email></contrib></contrib-group><?date-created 20211230?><?date-revised 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mopd2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mopd2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mopd2\" document-type=\"chapter\" object-id=\"mopd2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_miccap-ms\"><title>Microcephaly-Capillary Malformation Syndrome</title><subtitle content-type=\"alt-title\">Synonym: MIC-CAP Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carter</surname><given-names>Melissa T</given-names></name><degrees>MSc, MD, FRCPC</degrees><email>mcarter@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>ghayda.mirzaa@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McDonell</surname><given-names>Laura M</given-names></name><degrees>MD, PhD</degrees><email>laura.mcdonell@nshealth.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boycott</surname><given-names>Kym M</given-names></name><degrees>PhD, MD, FRCPC, FCCMG</degrees><email>kboycott@cheo.on.ca</email></contrib></contrib-group><?date-created 20131212?><?date-updated 20210318?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_miccap-ms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_miccap-ms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"miccap-ms\" document-type=\"chapter\" object-id=\"miccap-ms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_anophthalmia-ov\"><title>Microphthalmia/Anophthalmia/Coloboma Spectrum &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bardakjian</surname><given-names>Tanya</given-names></name><degrees>MS, LCGC</degrees><aff>GeneDx<break/>Gaithersburg, Maryland</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weiss</surname><given-names>Avery</given-names></name><degrees>MD</degrees><aff>Department of Ophthalmology<break/>Children's Hospital and Regional Medical Center<break/>Seattle, Washington</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schneider</surname><given-names>Adele</given-names></name><degrees>MD, FACMG</degrees><aff>Department of Genetics<break/>Einstein Medical Center<break/>Philadelphia, Pennsylvania</aff></contrib></contrib-group><?date-created 20040129?><?date-updated 20150709?><?date-revised 20070215?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_anophthalmia-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Definition\"><title>Definition</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Definition\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Causes\"><title>Causes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Causes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Evaluation_Strategy\"><title>Evaluation Strategy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Evaluation_Strategy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_anophthalmia-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"anophthalmia-ov\" document-type=\"chapter\" object-id=\"anophthalmia-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_microph-lsd\"><title>Microphthalmia with Linear Skin Defects Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Microphthalmia, Dermal Aplasia, and Sclerocornea (MIDAS) Syndrome; MLS Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morleo</surname><given-names>Manuela</given-names></name><degrees>PhD</degrees><email>morleo@tigem.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Franco</surname><given-names>Brunella</given-names></name><degrees>MD</degrees><email>franco@tigem.it</email></contrib></contrib-group><?date-created 20090618?><?date-updated 20180726?><?date-revised 20090908?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_microph-lsd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_microph-lsd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"microph-lsd\" document-type=\"chapter\" object-id=\"microph-lsd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_opitz\"><title><italic toggle=\"yes\">MID1</italic>-Related Opitz G/BBB Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: X-Linked Opitz Syndrome (XLOS), X-Linked Opitz G/BBB Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meroni</surname><given-names>Germana</given-names></name><degrees>PhD</degrees><aff>Department of Life Sciences<break/>University of Trieste<break/>Trieste, Italy</aff><email>gmeroni@units.it</email></contrib></contrib-group><?date-created 20041217?><?date-updated 20231019?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_opitz.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opitz.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opitz\" document-type=\"chapter\" object-id=\"opitz.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_milroy\"><title>Milroy Disease</title><subtitle content-type=\"alt-title\">Synonym: Hereditary Lymphedema Type I</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Zanten</surname><given-names>Malou</given-names></name><degrees>PhD</degrees><aff>Senior Clinical Research Practitioner, Molecular and Clinical Sciences Research Institute<break/>St George's, University of London<break/>London, United Kingdom</aff><email>mvanzant@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mansour</surname><given-names>Sahar</given-names></name><degrees>FRCP</degrees><aff>Professor of Clinical Genetics, SW Thames Regional Genetics Department<break/>St George's, University of London<break/>London, United Kingdom</aff><email>smansour@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ostergaard</surname><given-names>Pia</given-names></name><degrees>PhD</degrees><aff>Professor of Human Genetics, Molecular and Clinical Sciences Research Institute<break/>St George's, University of London<break/>London, United Kingdom</aff><email>posterga@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mortimer</surname><given-names>Peter</given-names></name><degrees>MD, FRCP</degrees><aff>Professor of Dermatological Medicine, Molecular and Clinical Sciences Research Institute<break/>St George's, University of London<break/>London, United Kingdom</aff><email>mortimer@sgul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordon</surname><given-names>Kristiana</given-names></name><degrees>MD, FRCP</degrees><aff>Consultant and Reader in Dermatology &#x00026; Lymphovascular Medicine<break/>St George's University Hospitals<break/>NHS Foundation Trust<break/>London, United Kingdom</aff><email>kristiana.gordon@stgeorges.nhs.uk</email></contrib></contrib-group><?date-created 20060427?><?date-updated 20210218?><?date-revised 20070406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_milroy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_milroy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"milroy\" document-type=\"chapter\" object-id=\"milroy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mirage\"><title>MIRAGE Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tanase-Nakao</surname><given-names>Kanako</given-names></name><degrees>MD, PhD</degrees><email>nakao-k@ncchd.go.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Olson</surname><given-names>Timothy S</given-names></name><degrees>MD, PhD</degrees><email>olsont@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Narumi</surname><given-names>Satoshi</given-names></name><degrees>MD, PhD</degrees><email>narumi-s@ncchd.go.jp</email></contrib></contrib-group><?date-created 20201125?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mirage.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mirage.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mirage\" document-type=\"chapter\" object-id=\"mirage.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_narp\"><title>Mitochondrial DNA-Associated Leigh Syndrome Spectrum</title><subtitle content-type=\"alt-title\">Synonym: mtDNA-Associated Leigh Syndrome Spectrum</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ball</surname><given-names>Megan</given-names></name><degrees>MD</degrees><email>megan.ball@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thorburn</surname><given-names>David R</given-names></name><degrees>PhD, FHGSA, FFSc(RCPA)</degrees><email>david.thorburn@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rahman</surname><given-names>Shamima</given-names></name><degrees>PhD, FRCP, FRCPCH</degrees><email>shamima.rahman@ucl.ac.uk</email></contrib></contrib-group><?date-created 20031030?><?date-updated 20240509?><?date-revised 20230504?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_narp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_narp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"narp\" document-type=\"chapter\" object-id=\"narp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mtdna-md-ov\"><title>Mitochondrial DNA Maintenance Defects Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Craigen</surname><given-names>William J</given-names></name><degrees>MD, PhD, FACMG</degrees><email>wcraigen@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Lee-Jun C</given-names></name><degrees>PhD, FACMG</degrees><email>ljwong@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>fscaglia@bcm.edu</email></contrib></contrib-group><?date-created 20180308?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mtdna-md-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Mitochondrial_DNA_Maintenanc\"><title> Mitochondrial DNA Maintenance Defects</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Mitochondrial_DNA_Maintenanc\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Causes_of_mtDNA_Maintenance\"><title> Causes of mtDNA Maintenance Defects</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Causes_of_mtDNA_Maintenance\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Clinical_Characteristics_of\"><title> Clinical Characteristics of mtDNA Maintenance Defects</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Evaluation_Strategies_to_Dia\"><title> Evaluation Strategies to Diagnose mtDNA Maintenance Defects and to Establish a Genetic Cause in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Evaluation_Strategies_to_Dia\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Management_of_Individuals_wi\"><title> Management of Individuals with mtDNA Maintenance Defects</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Management_of_Individuals_wi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtdna-md-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtdna-md-ov\" document-type=\"chapter\" object-id=\"mtdna-md-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mt-mpan\"><title>Mitochondrial Membrane Protein-Associated Neurodegeneration</title><subtitle content-type=\"alt-title\">Synonym: Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS, CGC</degrees><aff>Genetic Counselor and Research Instructor, Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klopstock</surname><given-names>Thomas</given-names></name><degrees>MD</degrees><aff>Professor of Neurology, Friedrich Baur Institute<break/>Department of Neurology<break/>University Hospital, LMU Munich<break/>Munich, Germany</aff><email>thomas.klopstock@med.lmu.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kmiec</surname><given-names>Tomasz</given-names></name><degrees>MD</degrees><aff>Associate Professor, Neurology<break/>Children's Memorial Health Institute<break/>Warsaw, Poland</aff><email>dr.tomaszkmiec@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hogarth</surname><given-names>Penelope</given-names></name><degrees>MD</degrees><aff>Associate Professor, Molecular and Medical Genetics<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hogarthp@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><aff>Professor and Chair, Molecular and Medical Genetics<break/>Professor, Pediatrics and Neurology<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hayflick@ohsu.edu</email></contrib></contrib-group><?date-created 20140227?><?date-updated 20210304?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mt-mpan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-mpan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-mpan\" document-type=\"chapter\" object-id=\"mt-mpan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mngie\"><title>Mitochondrial Neurogastrointestinal Encephalopathy Disease</title><subtitle content-type=\"alt-title\">Synonyms: Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, MNGIE Syndrome, Thymidine Phosphorylase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hirano</surname><given-names>Michio</given-names></name><degrees>MD</degrees><aff>H Houston Merritt Center\nDepartment of Neurology\nColumbia University Medical Center\nNew York, New York</aff><email>mh29@columbia.edu</email></contrib></contrib-group><?date-created 20050422?><?date-updated 20160114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mngie.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mngie.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mngie\" document-type=\"chapter\" object-id=\"mngie.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_echs1-def\"><title>Mitochondrial Short-Chain Enoyl-CoA Hydratase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ECHS1D, ECHS1 Deficiency, Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency, SCEH Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ganetzky</surname><given-names>Rebecca</given-names></name><degrees>MD</degrees><aff>Associate Professor of Pediatrics<break/>Division of Human Genetics<break/>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>ganetzkyr@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kong</surname><given-names>Christine</given-names></name><degrees>BA</degrees><aff>Perelman School of Medicine<break/>University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>christine.kong@pennmedicine.upenn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Elsharkawi</surname><given-names>Ibrahim</given-names></name><degrees>MD</degrees><aff>Assistant Professor of Genetics and Genomic Sciences<break/>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>ibrahim.elsharkawi@mssm.edu</email></contrib></contrib-group><?date-created 20190620?><?date-updated 20260312?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_echs1-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_echs1-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"echs1-def\" document-type=\"chapter\" object-id=\"echs1-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mn1-ctt\"><title><italic toggle=\"yes\">MN1</italic> C-Terminal Truncation Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mak</surname><given-names>Christopher CY</given-names></name><degrees>MBChB, PhD</degrees><email>ccymak@connect.hku.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fung</surname><given-names>Jasmine LF</given-names></name><degrees>BBiomedSc</degrees><email>jasflf@connect.hku.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Mianne</given-names></name><degrees>MSc</degrees><email>mianne@hku.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lin</surname><given-names>Angela E</given-names></name><degrees>MD</degrees><email>alin@partners.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Amiel</surname><given-names>Jeanne</given-names></name><degrees>MD, PhD</degrees><email>jeanne.amiel@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Doherty</surname><given-names>Dan</given-names></name><degrees>MD, PhD</degrees><email>ddoher@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gordon</surname><given-names>Christopher T</given-names></name><degrees>PhD</degrees><email>chris.gordon@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Brian HY</given-names></name><degrees>MD</degrees><email>bhychung@hku.hk</email></contrib></contrib-group><?date-created 20200813?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mn1-ctt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mn1-ctt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mn1-ctt\" document-type=\"chapter\" object-id=\"mn1-ctt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mc-def\"><title>Molybdenum Cofactor Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Misko</surname><given-names>Albert</given-names></name><degrees>MD, PhD</degrees><email>amisko@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mahtani</surname><given-names>Karishma</given-names></name><degrees>BSc</degrees><email>k.mahtani@smd18.qmul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abbott</surname><given-names>Jessica</given-names></name><email>jessicaabbott113@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schwarz</surname><given-names>Guenter</given-names></name><email>gschwarz@uni-koeln.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Atwal</surname><given-names>Paldeep</given-names></name><degrees>MD</degrees><email>dra@atwalclinic.com</email></contrib></contrib-group><?date-created 20211202?><?date-revised 20230202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mc-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mc-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mc-def\" document-type=\"chapter\" object-id=\"mc-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dystonia-ov\"><title>Monogenic Isolated Dystonia Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lohmann</surname><given-names>Katja</given-names></name><degrees>PhD</degrees><email>katja.lohmann@uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lange</surname><given-names>Lara</given-names></name><degrees>MD</degrees><email>la.lange@uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><email>christine.klein@neuro.uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zech</surname><given-names>Michael</given-names></name><degrees>MD</degrees><email>michael.zech@mri.tum.de</email></contrib></contrib-group><?date-created 20031028?><?date-updated 20251211?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dystonia-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Clinical_Characteristics_of\"><title> Clinical Characteristics of Monogenic Isolated Dystonia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Causes_of_Monogenic_Isolated\"><title> Causes of Monogenic Isolated Dystonia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Causes_of_Monogenic_Isolated\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Differential_Diagnosis_of_Mo\"><title> Differential Diagnosis of Monogenic Isolated Dystonia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Differential_Diagnosis_of_Mo\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Evaluation_Strategies_to_Ide\"><title> Evaluation Strategies to Identify the Cause of Monogenic Isolated Dystonia in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Evaluation_Strategies_to_Ide\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dystonia-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dystonia-ov\" document-type=\"chapter\" object-id=\"dystonia-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_parkinson-overview\"><title>Monogenic Parkinson Disease Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morris</surname><given-names>Huw</given-names></name><degrees>PhD, FRCP</degrees><aff>UCL Queen Square Institute of Neurology<break/>London, United Kingdom</aff><email>h.morris@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lim</surname><given-names>Shen-Yang</given-names></name><degrees>MD, FRACP</degrees><aff>University of Malaya Medical Centre<break/>Kuala Lumpur, Malaysia</aff><email>sylim@ummc.edu.my</email></contrib></contrib-group><?date-created 20040525?><?date-updated 20250515?><?date-revised 20090709?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_parkinson-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Clinical_Characterist\"><title> Clinical Characteristics of Parkinson Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Clinical_Characterist\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Monogenic_Causes_of_P\"><title> Monogenic Causes of Parkinson Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Monogenic_Causes_of_P\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Differential_Diagnosi\"><title> Differential Diagnosis of Monogenic Parkinson Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Differential_Diagnosi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Evaluation_Strategies\"><title> Evaluation Strategies to Identify the Genetic Cause of Parkinson Disease in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Evaluation_Strategies\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Participation_in_Targ\"><title> Participation in Targeted Therapeutic Clinical Trials</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Participation_in_Targ\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_parkinson-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"parkinson-overview\" document-type=\"chapter\" object-id=\"parkinson-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_monosomy7-ov\"><title>Monosomy 7 Predisposition Syndromes Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Olson</surname><given-names>Timothy S</given-names></name><degrees>MD, PhD</degrees><email>olsont@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dickerson</surname><given-names>Kathryn E</given-names></name><degrees>MD</degrees><email>kathryn.dickerson@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nakano</surname><given-names>Taizo A</given-names></name><degrees>MD</degrees><email>taizo.nakano@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wlodarski</surname><given-names>Marcin</given-names></name><degrees>MD, PhD</degrees><email>marcin.wlodarski@stjude.org</email></contrib></contrib-group><?date-created 20210610?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_monosomy7-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Clinical_Characteristics_of\"><title> Clinical Characteristics of Monosomy 7 Predisposition Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Causes_of_Monosomy_7_Predis\"><title> Causes of Monosomy 7 Predisposition Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Causes_of_Monosomy_7_Predis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Evaluation_Strategies_to_Id\"><title> Evaluation Strategies to Identify the Genetic Cause of Monosomy 7 Predisposition in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Evaluation_Strategies_to_Id\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Differential_Diagnosis_of_M\"><title> Differential Diagnosis of Monosomy 7 Predisposition Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Differential_Diagnosis_of_M\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Management_To_Inform_When_P\"><title> Management: To Inform (When Possible) Medical Management of Monosomy 7 Based on Genetic Cause</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Management_To_Inform_When_P\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Risk_Assessment_and_Surveil\"><title> Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Monosomy 7 Predisposition Syndromes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Risk_Assessment_and_Surveil\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_monosomy7-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"monosomy7-ov\" document-type=\"chapter\" object-id=\"monosomy7-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epas1-gofs\"><title>Mosaic <italic toggle=\"yes\">EPAS1</italic> Gain-of-Function Spectrum</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkaissi</surname><given-names>Hussam</given-names></name><degrees>MD, MS</degrees><email>hussam.alkaissi@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pacak</surname><given-names>Karel</given-names></name><degrees>MD, DSc, FACE, Dhc</degrees><email>karel@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhuang</surname><given-names>Zhengping</given-names></name><degrees>MD, PhD</degrees><email>zhengping.zhuang@nih.gov</email></contrib></contrib-group><?date-created 20260326?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epas1-gofs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epas1-gofs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epas1-gofs\" document-type=\"chapter\" object-id=\"epas1-gofs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mpph\"><title>MPPH Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Seattle Children's Research Institute<break/>Seattle, Washington</aff><email>ghayda.mirzaa@seattlechildrens.org</email></contrib></contrib-group><?date-created 20161117?><?date-updated 20220728?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mpph.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpph.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpph\" document-type=\"chapter\" object-id=\"mpph.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mpv17-mtdep\"><title><italic toggle=\"yes\">MPV17-</italic>Related Mitochondrial DNA Maintenance Defect</title><subtitle content-type=\"alt-title\">Synonyms: Mitochondrial DNA Depletion Syndrome 6 (MTDPS6), Hepatocerebral Type; MPV17 Deficiency; <italic toggle=\"yes\">MPV17</italic> Hepatocerebral Mitochondrial DNA Depletion Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Julia</given-names></name><degrees>BS</degrees><email>julia.wang@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dai</surname><given-names>Hongzheng</given-names></name><degrees>PhD</degrees><email>hongzheng.dai@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>malmannai@kfmc.med.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>fscaglia@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Craigen</surname><given-names>William J</given-names></name><degrees>MD, PhD, FACMG</degrees><email>wcraigen@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Lee-Jun C</given-names></name><degrees>PhD, FACMG</degrees><email>ljwong@bcm.edu</email></contrib></contrib-group><?date-created 20120517?><?date-updated 20180517?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mpv17-mtdep.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mpv17-mtdep.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mpv17-mtdep\" document-type=\"chapter\" object-id=\"mpv17-mtdep.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ml3c\"><title>Mucolipidosis III Gamma</title><subtitle content-type=\"alt-title\">Synonyms: MLIII Gamma, ML III&#x003b3;, Mucolipidosis Type III Gamma</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raas-Rothschild</surname><given-names>Annick</given-names></name><degrees>MD</degrees><email>annick.rein@sheba.health.org.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Spiegel</surname><given-names>Ronen</given-names></name><degrees>MD</degrees><email>spiegel_ro@clalit.org.il</email></contrib></contrib-group><?date-created 20100128?><?date-updated 20260423?><?date-revised 20110929?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ml3c.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml3c.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml3c\" document-type=\"chapter\" object-id=\"ml3c.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ml4\"><title>Mucolipidosis IV</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Misko</surname><given-names>Albert</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Massachusetts General Hospital<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>amisko@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grishchuk</surname><given-names>Yulia</given-names></name><degrees>PhD</degrees><aff>Department of Neurology<break/>Massachusetts General Hospital<break/>Center for Genomic Medicine<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>ygrishchuk@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldin</surname><given-names>Ehud</given-names></name><degrees>PhD</degrees><aff>Section on Molecular Neurogenetics<break/>Medical Genetics Branch<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>goldine@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schiffmann</surname><given-names>Raphael</given-names></name><degrees>MD, MHSc</degrees><aff>Baylor Scott &#x00026; White Research Institute<break/>Dallas, Texas</aff><email>raphael.schiffmann@bswhealth.org</email></contrib></contrib-group><?date-created 20050128?><?date-updated 20210211?><?date-revised 20051201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ml4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ml4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ml4\" document-type=\"chapter\" object-id=\"ml4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hunter\"><title>Mucopolysaccharidosis Type II</title><subtitle content-type=\"alt-title\">Synonyms: Hunter Syndrome, Iduronate-2-Sulfatase Deficiency, MPS II</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scarpa</surname><given-names>Maurizio</given-names></name><degrees>MD, PhD</degrees><aff>Regional Coordinating Center for Rare Diseases<break/>University Hospital of Udine<break/>Udine Italy</aff><email>maurizio.scarpa@asufc.sanita.fvg.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lampe</surname><given-names>Christina</given-names></name><degrees>MD</degrees><aff>Center for Rare Diseases<break/>Department of Pediatric Neurology<break/>Muscular Diseases and Social Pediatrics<break/>University of Giessen<break/>Giessen, Germany</aff><email>christina.lampe@paediat.med.uni-giessen.de</email></contrib></contrib-group><?date-created 20071106?><?date-updated 20250116?><?date-revised 20260428?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hunter.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hunter.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hunter\" document-type=\"chapter\" object-id=\"hunter.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mps3\"><title>Mucopolysaccharidosis Type III</title><subtitle content-type=\"alt-title\">Synonyms: MPS III, Sanfilippo Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wagner</surname><given-names>Victoria F</given-names></name><degrees>MS, CGC</degrees><email>victoria.wagner@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Northrup</surname><given-names>Hope</given-names></name><degrees>MD</degrees><email>hope.northrup@uth.tmc.edu</email></contrib></contrib-group><?date-created 20190919?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mps3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps3\" document-type=\"chapter\" object-id=\"mps3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mps1\"><title>Mucopolysaccharidosis Type I</title><subtitle content-type=\"alt-title\">Synonyms: Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS I</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Clarke</surname><given-names>Lorne A</given-names></name><degrees>MD</degrees><aff>Professor, Medical Genetics<break/>University of British Columbia<break/>Vancouver, BC, Canada</aff><email>lorne.clarke@ubc.ca</email></contrib></contrib-group><?date-created 20021031?><?date-updated 20210225?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mps1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps1\" document-type=\"chapter\" object-id=\"mps1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mps4a\"><title>Mucopolysaccharidosis Type IVA</title><subtitle content-type=\"alt-title\">Synonyms: Morquio A Disease, Morquio Syndrome Type A, MPS IVA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Regier</surname><given-names>Debra S</given-names></name><degrees>MD, PhD</degrees><email>dregier@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oetgen</surname><given-names>Matthew</given-names></name><degrees>MD</degrees><email>moetgen@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tanpaiboon</surname><given-names>Pranoot</given-names></name><degrees>MD</degrees><email>ptanpaib@childrensnational.org</email></contrib></contrib-group><?date-created 20130711?><?date-updated 20210617?><?date-revised 20140313?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mps4a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps4a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps4a\" document-type=\"chapter\" object-id=\"mps4a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mps7\"><title>Mucopolysaccharidosis Type VII</title><subtitle content-type=\"alt-title\">Synonyms: Beta-Glucuronidase Deficiency, MPS7, Sly Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sun</surname><given-names>Angela</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Raymond</given-names></name><degrees>MD</degrees><email>rawang@choc.org</email></contrib></contrib-group><?date-created 20240104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mps7.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mps7.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mps7\" document-type=\"chapter\" object-id=\"mps7.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_muenke\"><title>Muenke Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kruszka</surname><given-names>Paul</given-names></name><degrees>MD, MPH</degrees><email>pkruszka@genedx.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rolle</surname><given-names>Myron</given-names></name><degrees>MD</degrees><email>mrolle@partners.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kahle</surname><given-names>Kristopher T</given-names></name><degrees>MD, PhD</degrees><email>kahle.kristopher@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Muenke</surname><given-names>Maximilian</given-names></name><degrees>MD, FACMG</degrees><email>maxmuenke@gmail.com</email></contrib></contrib-group><?date-created 20060510?><?date-updated 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_muenke.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_muenke.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"muenke\" document-type=\"chapter\" object-id=\"muenke.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mona\"><title>Multicentric Osteolysis Nodulosis and Arthropathy</title><subtitle content-type=\"alt-title\">Synonyms: Torg Syndrome, Torg-Winchester Syndrome, <italic toggle=\"yes\">MMP2</italic>-Related Multicentric Osteolysis, Nodulosis, and Arthropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhavani</surname><given-names>Gandham SriLakshmi</given-names></name><degrees>MSc, PhD</degrees><email>gsl.bhavani@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shah</surname><given-names>Hitesh</given-names></name><degrees>MS</degrees><email>hiteshshah12@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shukla</surname><given-names>Anju</given-names></name><degrees>MD, DM</degrees><email>anju.shukla@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girisha</surname><given-names>Katta Mohan</given-names></name><degrees>MD, DM</degrees><email>girish.katta@manipal.edu</email></contrib></contrib-group><?date-created 20160714?><?date-updated 20210909?><?date-revised 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mona.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mona.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mona\" document-type=\"chapter\" object-id=\"mona.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_madd\"><title>Multiple Acyl-CoA Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Electron Transfer Flavoprotein Dehydrogenase Deficiency, Glutaric Acidemia II, Glutaric Aciduria II, MADD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prasun</surname><given-names>Pankaj</given-names></name><degrees>MD</degrees><aff>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>pankaj.prasun@mssm.edu</email></contrib></contrib-group><?date-created 20200618?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_madd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_madd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"madd\" document-type=\"chapter\" object-id=\"madd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_men1\"><title>Multiple Endocrine Neoplasia Type 1</title><subtitle content-type=\"alt-title\">Synonyms: MEN1, MEN1 Syndrome, Multiple Endocrine Adenomatosis, Wermer Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Giusti</surname><given-names>Francesca</given-names></name><degrees>MD, PhD</degrees><email>francesca.giusti@unifi.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marini</surname><given-names>Francesca</given-names></name><degrees>PhD</degrees><email>francesca.marini@unifi.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brandi</surname><given-names>Maria Luisa</given-names></name><degrees>MD, PhD</degrees><email>marialuisa@marialuisabrandi.it</email></contrib></contrib-group><?date-created 20050831?><?date-updated 20220310?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_men1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men1\" document-type=\"chapter\" object-id=\"men1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_men2\"><title>Multiple Endocrine Neoplasia Type 2</title><subtitle content-type=\"alt-title\">Synonyms: MEN2, MEN2 Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eng</surname><given-names>Charis</given-names></name><degrees>MD, PhD, FACP</degrees><email>engc@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Plitt</surname><given-names>Gilman</given-names></name><degrees>MD</degrees><email>plittg@ccf.org</email></contrib></contrib-group><?date-created 19990927?><?date-updated 20230810?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_men2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men2\" document-type=\"chapter\" object-id=\"men2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_men4\"><title>Multiple Endocrine Neoplasia Type 4</title><subtitle content-type=\"alt-title\">Synonyms: MEN4, <italic toggle=\"yes\">CDKN1B</italic>-Related Multiple Endocrine Neoplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brock</surname><given-names>Pamela</given-names></name><degrees>MS, CGC</degrees><email>pamela.brock@osumc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kirschner</surname><given-names>Lawrence</given-names></name><degrees>MD, PhD</degrees><email>lawrence.kirschner@osumc.edu</email></contrib></contrib-group><?date-created 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_men4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_men4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"men4\" document-type=\"chapter\" object-id=\"men4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_edm-ad\"><title>Multiple Epiphyseal Dysplasia, Autosomal Dominant</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Briggs</surname><given-names>Michael D</given-names></name><degrees>PhD</degrees><aff>Professor of Skeletal Genetics, Institute of Genetic Medicine<break/>Newcastle University<break/>International Centre for Life<break/>Newcastle upon Tyne, United Kingdom</aff><email>michael.briggs@newcastle.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wright</surname><given-names>Michael J</given-names></name><degrees>MB, ChB, MSc, FRCP</degrees><aff>Consultant Clinical Geneticist, Northern Genetics Service<break/>Institute of Human Genetics<break/>Newcastle upon Tyne, United Kingdom</aff><email>michael.wright19@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mortier</surname><given-names>Geert R</given-names></name><degrees>MD, PhD</degrees><aff>Chairman, Department of Clinical Genetics<break/>Department of Human Genetics<break/>KU Leuven<break/>Leuven, Belgium</aff><email>geert.mortier@uzleuven.be</email></contrib></contrib-group><?date-created 20030108?><?date-updated 20240704?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_edm-ad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm-ad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm-ad\" document-type=\"chapter\" object-id=\"edm-ad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_m-sulfatase-def\"><title>Multiple Sulfatase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schlotawa</surname><given-names>Lars</given-names></name><degrees>MD</degrees><email>lars.schlotawa@med.uni-goettingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adang</surname><given-names>Laura</given-names></name><degrees>MD, PhD</degrees><email>adangl@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Castro</surname><given-names>Mauricio</given-names></name><degrees>MD</degrees><email>mauricio.j.decastropretelt.mil@mail.mil</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahrens-Nicklas</surname><given-names>Rebecca</given-names></name><degrees>MD, PhD</degrees><email>ahrensnicklasr@email.chop.edu</email></contrib></contrib-group><?date-created 20190321?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_m-sulfatase-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_m-sulfatase-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"m-sulfatase-def\" document-type=\"chapter\" object-id=\"m-sulfatase-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds-mc\"><title>Musculocontractural Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: mcEDS; Adducted Thumb-Clubfoot Syndrome (ATCS); D&#x000fc;ndar Syndrome; Ehlers-Danlos Syndrome, Kosho Type (EDS-KT)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kosho</surname><given-names>Tomoki</given-names></name><degrees>MD, PhD</degrees><aff>Department of Medical Genetics<break/>Shinshu University School of Medicine;<break/>Center for Medical Genetics<break/>Shinshu University Hospital;<break/>Division of Clinical Sequencing<break/>Shinshu University School of Medicine;<break/>Research Center for Supports to Advanced Science<break/>Shinshu University;<break/>BioBank Shinshu<break/>Shinshu University Hospital<break/>Matsumoto, Japan</aff><email>ktomoki@shinshu-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yamaguchi</surname><given-names>Tomomi</given-names></name><degrees>PhD</degrees><aff>Department of Medical Genetics<break/>Shinshu University School of Medicine;<break/>Center for Medical Genetics<break/>Shinshu University Hospital;<break/>Division of Clinical Sequencing<break/>Shinshu University School of Medicine<break/>Matsumoto, Japan</aff><email>t_yamaguchi@shinshu-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mizumoto</surname><given-names>Shuji</given-names></name><degrees>PhD</degrees><aff>Department of Pathobiochemistry<break/>Faculty of Pharmacy<break/>Meijo University<break/>Nagoya, Japan</aff><email>mizumoto@meijo-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mendoza-Londono</surname><given-names>Roberto</given-names></name><degrees>MD, MS, FACMG, FCCMG</degrees><aff>Division of Clinical and Metabolic Genetics<break/>Department of P&#x000e6;diatrics<break/>The Hospital for Sick Children and University of Toronto<break/>Toronto, Canada</aff><email>roberto.mendoza@sickkids.ca</email></contrib></contrib-group><?date-created 20250515?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds-mc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-mc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-mc\" document-type=\"chapter\" object-id=\"eds-mc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_maps\"><title><italic toggle=\"yes\">MUTYH</italic> Polyposis</title><subtitle content-type=\"alt-title\">Synonyms: Multiple Colorectal Adenomas, Autosomal Recessive; <italic toggle=\"yes\">MUTYH</italic>-Associated Polyposis (MAP)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nielsen</surname><given-names>Maartje</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genetics<break/>Leiden University Medical Center<break/>Leiden, Netherlands</aff><email>m.nielsen@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Infante</surname><given-names>Elena</given-names></name><degrees>MS, CGC</degrees><aff>Department of Pediatrics<break/>Division of Medical Genetics<break/>UPMC Children&#x02019;s Hospital of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>infanteem@upmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brand</surname><given-names>Randall</given-names></name><degrees>MD</degrees><aff>Department of Medicine<break/>Division of Gastroenterology, Hepatology, and Nutrition<break/>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>brandre@pitt.edu</email></contrib></contrib-group><?date-created 20121004?><?date-updated 20191010?><?date-revised 20210527?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_maps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_maps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"maps\" document-type=\"chapter\" object-id=\"maps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myh9\"><title><italic toggle=\"yes\">MYH9</italic>-Related Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savoia</surname><given-names>Anna</given-names></name><degrees>PhD</degrees><aff>Department of Medical Sciences<break/>Institute for Maternal and Child Health &#x02013; IRCCS Burlo Garofolo<break/>University of Trieste<break/>Trieste, Italy</aff><email>anna.savoia@burlo.trieste.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pecci</surname><given-names>Alessandro</given-names></name><degrees>MD, PhD</degrees><aff>IRCCS Policlinico San Matteo Foundation;<break/>Department of Internal Medicine<break/>University of Pavia<break/>Pavia, Italy</aff><email>alessandro.pecci@unipv.it</email></contrib></contrib-group><?date-created 20081120?><?date-updated 20210218?><?date-revised 20090625?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myh9.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myh9.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myh9\" document-type=\"chapter\" object-id=\"myh9.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myhre\"><title>Myhre Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Myhre-LAPS Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lin</surname><given-names>Angela E</given-names></name><degrees>MD</degrees><email>alin@mgb.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brunetti-Pierri</surname><given-names>Nicola</given-names></name><degrees>MD</degrees><email>brunetti@tigem.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lindsay</surname><given-names>Mark E</given-names></name><degrees>MD, PhD</degrees><email>lindsay.mark@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schimmenti</surname><given-names>Lisa A</given-names></name><degrees>MD</degrees><email>schimmenti.lisa@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Starr</surname><given-names>Lois J</given-names></name><degrees>MD, PhD</degrees><email>lstarr@unmc.edu</email></contrib></contrib-group><?date-created 20170413?><?date-updated 20241212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myhre.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myhre.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myhre\" document-type=\"chapter\" object-id=\"myhre.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myotonia-c\"><title>Myotonia Congenita</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dun&#x000f8;</surname><given-names>Morten</given-names></name><degrees>PhD</degrees><aff>Molecular Genetic Laboratory<break/>Department of Clinical Genetics<break/>Rigshospitalet<break/>University of Copenhagen<break/>Copenhagen, Denmark</aff><email>morten.dunoe@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vissing</surname><given-names>John</given-names></name><degrees>MD, DMSci</degrees><aff>Neuromuscular Clinic and Research Unit<break/>Department of Neurology<break/>Rigshospitalet<break/>University of Copenhagen<break/>Copenhagen, Denmark</aff><email>john.vissing@regionh.dk</email></contrib></contrib-group><?date-created 20050803?><?date-updated 20210225?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myotonia-c.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonia-c.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonia-c\" document-type=\"chapter\" object-id=\"myotonia-c.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myotonic-d\"><title>Myotonic Dystrophy Type 1</title><subtitle content-type=\"alt-title\">Synonym: Steinert's Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bird</surname><given-names>Thomas D</given-names></name><degrees>MD</degrees><aff>Seattle VA Medical Center;<break/>Departments of Neurology and Medicine<break/>University of Washington<break/>Seattle, Washington</aff><email>tomnroz@uw.edu</email></contrib></contrib-group><?date-created 19990917?><?date-updated 20180712?><?date-revised 20241114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myotonic-d.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d\" document-type=\"chapter\" object-id=\"myotonic-d.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myotonic-d2\"><title>Myotonic Dystrophy Type 2</title><subtitle content-type=\"alt-title\">Synonym: Proximal Myotonic Myopathy (PROMM)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kleefeld</surname><given-names>Felix</given-names></name><degrees>MD</degrees><email>felix.kleefeld@bergmannsheil.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Erdmann</surname><given-names>Hannes</given-names></name><degrees>MD, MSc</degrees><email>hannes.erdmann@med.uni-muenchen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schoser</surname><given-names>Benedikt</given-names></name><degrees>MD</degrees><email>benedikt.schoser@med.uni-muenchen.de</email></contrib></contrib-group><?date-created 20060921?><?date-updated 20250925?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myotonic-d2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myotonic-d2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myotonic-d2\" document-type=\"chapter\" object-id=\"myotonic-d2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myrf-cugs\"><title><italic toggle=\"yes\">MYRF</italic>-Related Cardiac Urogenital Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaplan</surname><given-names>Julie D</given-names></name><degrees>MD</degrees><aff>Cleveland Clinic Foundation<break/>Cleveland, Ohio</aff><email>kaplanj3@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stewart</surname><given-names>Blythe</given-names></name><aff>University of Edinburgh<break/>Edinburgh, United Kingdom</aff><email>b.stewart-6@sms.ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prasov</surname><given-names>Lev</given-names></name><degrees>MD, PhD</degrees><aff>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>lprasov@umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pyle</surname><given-names>Tucker Louise C</given-names></name><degrees>MD, PhD</degrees><aff>Children's National Medical Center<break/>Washington, DC</aff><email>lpyle@cnmc.org</email></contrib></contrib-group><?date-created 20221110?><?date-updated 20250731?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myrf-cugs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myrf-cugs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myrf-cugs\" document-type=\"chapter\" object-id=\"myrf-cugs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-N?><toc-entry id=\"toc_nail-ps\"><title>Nail-Patella Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">LMX1B</italic>-Related Nail-Patella Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoover-Fong</surname><given-names>Julie E</given-names></name><degrees>MD, PhD</degrees><aff>Professor, McKusick-Nathans Department of Genetic Medicine; Director, Greenberg Center for Skeletal Dysplasias<break/>Johns Hopkins University<break/>Baltimore, Maryland</aff><email>jhoover2@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McIntosh</surname><given-names>Iain</given-names></name><degrees>PhD</degrees><aff>President, Bendel Camus Medical Education, Inc.</aff><email>iain@bendelcamus.com</email></contrib></contrib-group><?date-created 20030531?><?date-updated 20260602?><?date-revised 20231214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nail-ps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nail-ps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nail-ps\" document-type=\"chapter\" object-id=\"nail-ps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nars1\"><title><italic toggle=\"yes\">NARS1</italic>-Related Neurologic Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Efthymiou</surname><given-names>Stephanie</given-names></name><degrees>MSc, PhD</degrees><email>s.efthymiou@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagy</surname><given-names>Sara</given-names></name><degrees>MD, MSc</degrees><email>s.nagy@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aynekin</surname><given-names>Busra</given-names></name><degrees>PhD</degrees><email>b.aynekin@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20250227?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nars1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nars1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nars1\" document-type=\"chapter\" object-id=\"nars1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_norrie\"><title><italic toggle=\"yes\">NDP-</italic>Related Retinopathies</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scruggs</surname><given-names>Brittni A</given-names></name><degrees>MD, PhD</degrees><aff>Senior Associate Consultant<break/>Vitreoretinal Surgery &#x00026; Diseases<break/>Department of Ophthalmology<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>scruggs.brittni@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reding</surname><given-names>Madeline Q</given-names></name><degrees>MS, MPH, CGC</degrees><aff>Genetic Counselor, Clinical Genomics<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>reding.madeline@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schimmenti</surname><given-names>Lisa A</given-names></name><degrees>MD</degrees><aff>Co-Director, Medical Scientist Training Program (MD/PhD)<break/>Assistant Dean, MD/PhD Affairs MCGSBS<break/>Professor, Pediatrics Consultant, Departments of Clinical Genomics, Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology<break/>Mayo Clinic School of Medicine<break/>Rochester, Minnesota</aff><email>schimmenti.lisa@mayo.edu</email></contrib></contrib-group><?date-created 19990730?><?date-updated 20220331?><?date-revised 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_norrie.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_norrie.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"norrie\" document-type=\"chapter\" object-id=\"norrie.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nephron-ov\"><title>Nephronophthisis-Related Ciliopathies</title><subtitle content-type=\"alt-title\">Synonym: NPHP-RC</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stokman</surname><given-names>Marijn</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>Radboud University Medical Centre<break/>Nijmegen, the Netherlands</aff><email>marijn.stokman@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lilien</surname><given-names>Marc</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatric Nephrology<break/>Wilhelmina Children's Hospital<break/>University Medical Center Utrecht<break/>Utrecht, the Netherlands</aff><email>m.lilien@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knoers</surname><given-names>Nine</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genetics<break/>University Medical Center Groningen<break/>Groningen, the Netherlands</aff><email>v.v.a.m.knoers@umcg.nl</email></contrib></contrib-group><?date-created 20160623?><?date-updated 20230302?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nephron-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Clinical_Characteristics_of_N\"><title> Clinical Characteristics of Nephronophthisis-Related Ciliopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Clinical_Characteristics_of_N\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Genetic_Causes_of_Nephronopht\"><title> Genetic Causes of Nephronophthisis-Related Ciliopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Genetic_Causes_of_Nephronopht\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Differential_Diagnosis_of_Nep\"><title> Differential Diagnosis of Nephronophthisis-Related Ciliopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Differential_Diagnosis_of_Nep\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Evaluation_Strategies_to_Iden\"><title> Evaluation Strategies to Identify the Genetic Cause of a Nephronophthisis-Related Ciliopathy in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Evaluation_Strategies_to_Iden\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Management_of_Nephronophthisi\"><title> Management of Nephronophthisis-Related Ciliopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Management_of_Nephronophthisi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Genetic_Counseling_of_Nephron\"><title> Genetic Counseling of Nephronophthisis-Related Ciliopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Genetic_Counseling_of_Nephron\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nephron-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nephron-ov\" document-type=\"chapter\" object-id=\"nephron-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_neurocutaneous\"><title>Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fischer-Zirnsak</surname><given-names>Bj&#x000f6;rn</given-names></name><degrees>Dr. rer. medic</degrees><aff>Institute for Medical Genetics and Human Genetics<break/>Charit&#x000e9;-Universitaetsmedizin Berlin<break/>Berlin, Germany</aff><email>bjoern.fischer@charite.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Callewaert</surname><given-names>Bert L</given-names></name><degrees>MD, PhD</degrees><aff>Center for Medical Genetics<break/>Ghent University Hospital;<break/>Department of Biomolecular Medicine<break/>Ghent University<break/>Ghent, Belgium</aff><email>bert.callewaert@ugent.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gardeitchik</surname><given-names>Thatjana</given-names></name><degrees>MD</degrees><aff>Department of Human Genetics<break/>Radboudumc Medical Center<break/>Nijmegen, the Netherlands</aff><email>thatjana.gardeitchik@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kornak</surname><given-names>Uwe</given-names></name><degrees>MD, PhD</degrees><aff>Institute of Human Genetics<break/>University Medical Center<break/>G&#x000f6;ttingen, Germany</aff><email>uwe.kornak@med.uni-goettingen.de</email></contrib></contrib-group><?date-created 20260122?><?date-revised 20260521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_neurocutaneous.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neurocutaneous.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neurocutaneous\" document-type=\"chapter\" object-id=\"neurocutaneous.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nbia-ov\"><title>Neurodegeneration with Brain Iron Accumulation Disorders Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS, CGC</degrees><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>MA, MBBChir, PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wilson</surname><given-names>Jenny</given-names></name><degrees>MD</degrees><email>wilsjen@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan</given-names></name><degrees>MD</degrees><email>hayflick@ohsu.edu</email></contrib></contrib-group><?date-created 20130228?><?date-updated 20250306?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nbia-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Clinical_Characteristics_of_Neur\"><title> Clinical Characteristics of Neurodegeneration with Brain Iron Accumulation</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Clinical_Characteristics_of_Neur\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Genetic_Causes_of_Neurodegenerat\"><title> Genetic Causes of Neurodegeneration with Brain Iron Accumulation</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Genetic_Causes_of_Neurodegenerat\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Differential_Diagnosis_of_Neurod\"><title> Differential Diagnosis of Neurodegeneration with Brain Iron Accumulation</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Differential_Diagnosis_of_Neurod\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Evaluation_Strategies_to_Identif\"><title> Evaluation Strategies to Identify the Genetic Cause of Neurodegeneration with Brain Iron Accumulation in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Evaluation_Strategies_to_Identif\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Management_of_Neurodegeneration\"><title> Management of Neurodegeneration with Brain Iron Accumulation</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Management_of_Neurodegeneration\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Genetic_Counseling_of_Family_Mem\"><title> Genetic Counseling of Family Members of an Individual with Neurodegeneration with Brain Iron Accumulation</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Genetic_Counseling_of_Family_Mem\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbia-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbia-ov\" document-type=\"chapter\" object-id=\"nbia-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_neuroferritin\"><title>Neuroferritinopathy</title><subtitle content-type=\"alt-title\">Synonym: Hereditary Ferritinopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chinnery</surname><given-names>Patrick F</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci</degrees><aff>Department of Clinical Neurosciences<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>pfc25@medschl.cam.ac.uk</email></contrib></contrib-group><?date-created 20050425?><?date-updated 20221020?><?date-revised 20061130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_neuroferritin.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_neuroferritin.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"neuroferritin\" document-type=\"chapter\" object-id=\"neuroferritin.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nf1\"><title>Neurofibromatosis 1</title><subtitle content-type=\"alt-title\">Synonyms: NF1, Von Recklinghausen Disease, Von Recklinghausen's Neurofibromatosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Friedman</surname><given-names>Jan M</given-names></name><degrees>MD, PhD</degrees><aff>Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, Canada</aff><email>jan.friedman@ubc.ca</email></contrib></contrib-group><?date-created 19981002?><?date-updated 20220421?><?date-revised 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nf1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf1\" document-type=\"chapter\" object-id=\"nf1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ncl\"><title>Neuronal Ceroid Lipofuscinoses Overview</title><subtitle content-type=\"alt-title\">Synonyms: Batten Disease, CLN Disease, NCL</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Malik</surname><given-names>Kristina</given-names></name><degrees>MD</degrees><email>kristina.malik@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Santucci</surname><given-names>Kourtney</given-names></name><degrees>MD</degrees><email>kourtney.santucci@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sremba</surname><given-names>Leighann</given-names></name><degrees>MS</degrees><email>leighann.sremba@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steenari</surname><given-names>Maija</given-names></name><degrees>MD</degrees><email>msteenari@choc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miele</surname><given-names>Andrea</given-names></name><degrees>PhD</degrees><email>andrea.miele@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Demarest</surname><given-names>Scott</given-names></name><degrees>MD, MSCS</degrees><email>scott.demarest@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whiteman</surname><given-names>Ineka</given-names></name><degrees>PhD</degrees><email>research@bdsraaustralia.org</email></contrib></contrib-group><?date-created 20011010?><?date-updated 20250529?><?date-revised 20050815?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ncl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Clinical_Characteristics_of_Neuronal\"><title> Clinical Characteristics of Neuronal Ceroid Lipofuscinoses</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Clinical_Characteristics_of_Neuronal\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Genetic_Causes_of_Neuronal_Ceroid_Li\"><title> Genetic Causes of Neuronal Ceroid Lipofuscinoses</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Genetic_Causes_of_Neuronal_Ceroid_Li\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of a Neuronal Ceroid Lipofuscinosis in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ncl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ncl\" document-type=\"chapter\" object-id=\"ncl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bcns\"><title>Nevoid Basal Cell Carcinoma Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Basal Cell Nevus Syndrome (BCNS), Gorlin Syndrome, NBCCS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evans</surname><given-names>D Gareth</given-names></name><degrees>MD, FRCP</degrees><aff>Genomic Medicine<break/>Division of Evolution, Infection and Genomics<break/>Manchester Academic Health Science Centre;<break/>Consultant in Medical Genetics<break/>St Mary's Hospital and Christie Hospital;<break/>Professor of Medical Genetics and Cancer Epidemiology<break/>University of Manchester<break/>Manchester, United Kingdom</aff><email>gareth.evans@mft.nhs.uk</email></contrib></contrib-group><?date-created 20020620?><?date-updated 20240222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bcns.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bcns.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bcns\" document-type=\"chapter\" object-id=\"bcns.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nf2\"><title><italic toggle=\"yes\">NF2</italic>-Related Schwannomatosis</title><subtitle content-type=\"alt-title\">Synonyms: Neurofibromatosis 2, Neurofibromatosis Type II</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evans</surname><given-names>D Gareth</given-names></name><degrees>MD, FRCP</degrees><aff>Director, Neurofibromatosis Clinic<break/>Manchester University Hospitals;<break/>Foundation NHS Trust Regional Genetic Service<break/>St Mary's Hospital<break/>Manchester, United Kingdom</aff><email>gareth.evans@mft.nhs.uk</email></contrib></contrib-group><?date-created 19981014?><?date-updated 20230420?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nf2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nf2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nf2\" document-type=\"chapter\" object-id=\"nf2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nfia-dis\"><title><italic toggle=\"yes\">NFIA</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonym: NFIA Haploinsufficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Senaratne</surname><given-names>T Niroshini</given-names></name><degrees>PhD</degrees><aff>Pathology and Laboratory Medicine<break/>Clinical Genomics Center<break/>David Geffen School of Medicine<break/>University of California, Los Angeles<break/>Los Angeles, California</aff><email>tsenaratne@mednet.ucla.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quintero-Rivera</surname><given-names>Fabiola</given-names></name><degrees>MD</degrees><aff>Professor, Pathology and Laboratory Medicine<break/>School of Medicine<break/>University of California, Irvine<break/>Orange, California</aff><email>fabiolaq@hs.uci.edu</email></contrib></contrib-group><?date-created 20190613?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nfia-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfia-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfia-dis\" document-type=\"chapter\" object-id=\"nfia-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nfix-malan\"><title><italic toggle=\"yes\">NFIX</italic>-Related Malan Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Sotos-Like Syndrome, Sotos Syndrome 2</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Priolo</surname><given-names>Manuela</given-names></name><degrees>MD</degrees><aff>Operative Unit of Medical Genetics and Laboratory of Genetics<break/>AORN A Cardarelli<break/>Naples, Italy</aff><email>manuela.priolo@aocardarelli.it</email><email>prioloma@gmail.com</email></contrib></contrib-group><?date-created 20240801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nfix-malan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nfix-malan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nfix-malan\" document-type=\"chapter\" object-id=\"nfix-malan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ngly1-cddg\"><title><italic toggle=\"yes\">NGLY1</italic>-Related Congenital Disorder of Deglycosylation</title><subtitle content-type=\"alt-title\">Synonyms: NGLY1-CDDG, NGLY1 Deficiency, <italic toggle=\"yes\">NGLY1</italic>-Related Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lam</surname><given-names>Christina</given-names></name><degrees>MD, FACMG</degrees><aff>University of Washington<break/>Seattle Children's Hospital<break/>Seattle, Washington</aff><email>ctlam2@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolfe</surname><given-names>Lynne</given-names></name><degrees>MS, CRNP</degrees><aff>National Institutes of Health<break/>Bethesda, Maryland</aff><email>wolfela@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Need</surname><given-names>Anna</given-names></name><degrees>PhD</degrees><aff>Imperial College London<break/>London, United Kingdom</aff><email>a.need@imperial.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shashi</surname><given-names>Vandana</given-names></name><degrees>MD</degrees><aff>Duke University<break/>Durham, North Carolina</aff><email>vandana.shashi@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Enns</surname><given-names>Gregory</given-names></name><degrees>MD, FACMG</degrees><aff>Stanford University<break/>Stanford, California</aff><email>genns@stanford.edu</email></contrib></contrib-group><?date-created 20180208?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ngly1-cddg.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ngly1-cddg.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ngly1-cddg\" document-type=\"chapter\" object-id=\"ngly1-cddg.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_npc\"><title>Niemann-Pick Disease Type C</title><subtitle content-type=\"alt-title\">Synonym: Niemann-Pick Type C Disease (NPCD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bremova-Ertl</surname><given-names><?break?>Tatiana</given-names></name><degrees>MD</degrees><aff>Department of Neurology, University Hospital Bern (Inselspital),<break/>Switzerland</aff><email>tatiana.bremova-ertl@insel.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patterson</surname><given-names>Marc</given-names></name><degrees>MD</degrees><aff>Emeritus Professor, Neurology, Pediatrics and Medical Genetics<break/>Mayo Clinic<break/>Rochester, Minnesota</aff><email>patterson.marc@mayo.edu</email></contrib></contrib-group><?date-created 20000126?><?date-updated 20251120?><?date-revised 20190829?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_npc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_npc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"npc\" document-type=\"chapter\" object-id=\"npc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nijmegen\"><title>Nijmegen Breakage Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Varon</surname><given-names>Raymonda</given-names></name><degrees>PhD</degrees><aff>Institute of Medical and Human Genetics<break/>Charit&#x000e9; &#x02013; Universit&#x000e4;tsmedizin Berlin<break/>Berlin, Germany</aff><email>raymonda.varon-mateeva@charite.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Demuth</surname><given-names>Ilja</given-names></name><degrees>PhD</degrees><aff>Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Biology of Aging Working Group<break/>Charit&#x000e9; &#x02013; Universit&#x000e4;tsmedizin Berlin<break/>Berlin, Germany</aff><email>Ilja.demuth@charite.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chrzanowska</surname><given-names>Krystyna H</given-names></name><degrees>MD, PhD</degrees><aff>Children's Memorial Health Institute<break/>Warsaw, Poland</aff><email>k.chrzanowska@ipczd.pl</email></contrib></contrib-group><?date-created 19990517?><?date-updated 20220818?><?date-revised 20231130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nijmegen.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nijmegen.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nijmegen\" document-type=\"chapter\" object-id=\"nijmegen.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nkx2-1-dis\"><title><italic toggle=\"yes\">NKX2-1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Patel</surname><given-names>Neepa Jayant</given-names></name><degrees>MD</degrees><aff>Associate Professor<break/>Division of Movement Disorders<break/>Department of Neurological Sciences<break/>RUSH University Medical Center<break/>Chicago, Illinois</aff><email>neepa_patel@rush.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jankovic</surname><given-names>Joseph</given-names></name><degrees>MD</degrees><aff>Professor of Neurology<break/>Distinguished Chair in Movement Disorders<break/>Director, Parkinson's Disease Center and Movement Disorders Clinic<break/>Department of Neurology<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>josephj@bcm.edu</email></contrib></contrib-group><?date-created 20140220?><?date-updated 20230629?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nkx2-1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx2-1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx2-1-dis\" document-type=\"chapter\" object-id=\"nkx2-1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nkx6-2-spax\"><title><italic toggle=\"yes\">NKX6-2</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">NKX6-2</italic>-Related Spastic Ataxia with Hypomyelination, SPAX8</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chelban</surname><given-names>Viorica</given-names></name><degrees>MD</degrees><email>v.chelban@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaya</surname><given-names>Namik</given-names></name><degrees>PhD</degrees><email>nkaya@kfshrc.edu.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkuraya</surname><given-names>Fowzan</given-names></name><degrees>MD</degrees><email>falkuraya@kfshrc.edu.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20181004?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nkx6-2-spax.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkx6-2-spax.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkx6-2-spax\" document-type=\"chapter\" object-id=\"nkx6-2-spax.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nkh\"><title>Nonketotic Hyperglycinemia</title><subtitle content-type=\"alt-title\">Synonym: NKH</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Hove</surname><given-names>Johan LK</given-names></name><degrees>MD, PhD</degrees><email>johan.vanhove@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coughlin</surname><given-names>Curtis</given-names><suffix>II</suffix></name><degrees>MS, MBe</degrees><email>curtis.coughlin@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Swanson</surname><given-names>Michael</given-names></name><degrees>PhD</degrees><email>mike.swanson@ucdenver.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hennermann</surname><given-names>Julia B</given-names></name><degrees>MD, PhD</degrees><email>julia.hennermann@unimedizin-mainz.de</email></contrib></contrib-group><?date-created 20021114?><?date-updated 20190523?><?date-revised 20050726?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nkh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nkh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nkh\" document-type=\"chapter\" object-id=\"nkh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xxms\"><title>Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development</title><subtitle content-type=\"alt-title\">Synonym: 46,XX Testicular DSD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>D&#x000e9;lot</surname><given-names>Emmanu&#x000e8;le C</given-names></name><degrees>PhD</degrees><email>edelot@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vilain</surname><given-names>Eric J</given-names></name><degrees>MD, PhD, FACMG</degrees><email>evilain@childrensnational.org</email></contrib></contrib-group><?date-created 20031030?><?date-updated 20220526?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xxms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xxms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xxms\" document-type=\"chapter\" object-id=\"xxms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gonad-dys-46xy\"><title>Nonsyndromic Disorders of Testicular Development Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mohnach</surname><given-names>Lauren</given-names></name><degrees>MS</degrees><email>lmohnach@umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fechner</surname><given-names>Patricia Y</given-names></name><degrees>MD</degrees><email>patricia.fechner@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Keegan</surname><given-names>Catherine E</given-names></name><degrees>MD, PhD</degrees><email>keeganc@med.umich.edu</email></contrib></contrib-group><?date-created 20080521?><?date-updated 20220818?><?date-revised 20090915?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gonad-dys-46xy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Clinical_Characteristics\"><title> Clinical Characteristics of Nonsyndromic Disorders of Testicular Development</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Causes_of_Nonsyndromic_Di\"><title> Causes of Nonsyndromic Disorders of Testicular Development</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Causes_of_Nonsyndromic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Evaluation_Strategies_to\"><title> Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Disorders of Testicular Development</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Evaluation_Strategies_to\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gonad-dys-46xy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gonad-dys-46xy\" document-type=\"chapter\" object-id=\"gonad-dys-46xy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hi\"><title>Nonsyndromic Genetic Hyperinsulinism Overview</title><subtitle content-type=\"alt-title\">Synonyms: Congenital Hyperinsulinism (CHI), Familial Hyperinsulinism, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gillis</surname><given-names>David</given-names></name><degrees>MD</degrees><aff>Hadassah Hebrew University Hospital<break/>Jerusalem, Israel</aff><email>dgillis@hadassah.org.il</email></contrib></contrib-group><?date-created 20030819?><?date-updated 20241031?><?date-revised 20100615?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hi.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Clinical_Characteristics_of_Nonsyndro\"><title> Clinical Characteristics of Nonsyndromic Genetic Hyperinsulinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Clinical_Characteristics_of_Nonsyndro\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Causes_of_Nonsyndromic_Genetic_Hyperi\"><title> Causes of Nonsyndromic Genetic Hyperinsulinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Causes_of_Nonsyndromic_Genetic_Hyperi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Evaluation_Strategies_to_Identify_the\"><title> Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Genetic Hyperinsulinism in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Evaluation_Strategies_to_Identify_the\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Medical_Management_of_Nonsyndromic_Ge\"><title> Medical Management of Nonsyndromic Genetic Hyperinsulinism Based on Genetic Cause</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Medical_Management_of_Nonsyndromic_Ge\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Risk_Assessment_and_Surveillance_of_A\"><title> Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Nonsyndromic Genetic Hyperinsulinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Risk_Assessment_and_Surveillance_of_A\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hi.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hi\" document-type=\"chapter\" object-id=\"hi.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mt-deafness\"><title>Nonsyndromic Hearing Loss and Deafness, Mitochondrial</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Usami</surname><given-names>Shin-ichi</given-names></name><degrees>MD, PhD</degrees><aff>Professor and Chairman, Department of Otorhinolaryngology\nShinshu University School of Medicine\nMatsumoto, Japan</aff><email>usami@shinshu-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nishio</surname><given-names>Shin-ya</given-names></name><degrees>PhD</degrees><aff>Assistant Professor, Department of Otorhinolaryngology\nShinshu University School of Medicine\nMatsumoto, Japan</aff><email>nishio@shinshu-u.ac.jp</email></contrib></contrib-group><?date-created 20041022?><?date-updated 20180614?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mt-deafness.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-deafness.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-deafness\" document-type=\"chapter\" object-id=\"mt-deafness.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hyper-card\"><title>Nonsyndromic Hypertrophic Cardiomyopathy Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cirino</surname><given-names>Allison L</given-names></name><degrees>MS, CGC</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Channaoui</surname><given-names>Nadine</given-names></name><degrees>MS, CGC</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ho</surname><given-names>Carolyn</given-names></name><degrees>MD</degrees></contrib></contrib-group><?date-created 20080805?><?date-updated 20250306?><?date-revised 20210708?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hyper-card.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Clinical_Characteristics_of_H\"><title> Clinical Characteristics of Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Clinical_Characteristics_of_H\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Genetic_Causes_of_Nonsyndromi\"><title> Genetic Causes of Nonsyndromic Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Genetic_Causes_of_Nonsyndromi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Differential_Diagnosis_of_Non\"><title> Differential Diagnosis of Nonsyndromic Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Differential_Diagnosis_of_Non\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Evaluation_Strategy_to_Identi\"><title> Evaluation Strategy to Identify (when Possible) the Genetic Cause of Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Evaluation_Strategy_to_Identi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Management_of_Hypertrophic_Ca\"><title> Management of Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Management_of_Hypertrophic_Ca\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Genetic_Counseling_of_Family\"><title> Genetic Counseling of Family Members of an Individual with Nonsyndromic Hypertrophic Cardiomyopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Genetic_Counseling_of_Family\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hyper-card.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hyper-card\" document-type=\"chapter\" object-id=\"hyper-card.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lca-ov\"><title>Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy Overview</title><subtitle content-type=\"alt-title\">Synonyms: EOSRD, LCA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kumaran</surname><given-names>Neruban</given-names></name><degrees>BSc, MBBS, PhD, FRCOphth</degrees><email>n.kumaran@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pennesi</surname><given-names>Mark E</given-names></name><degrees>MD, PhD</degrees><email>pennesi@retinafoundation.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yang</surname><given-names>Paul</given-names></name><degrees>MD, PhD</degrees><email>yangp@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trzupek</surname><given-names>Karmen M</given-names></name><degrees>MS, CGC</degrees><email>ktrzupek@informeddna.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Michaelides</surname><given-names>Michel</given-names></name><degrees>BSc, MBBS, MD(Res), FRCOphth, FACS</degrees><email>michel.michaelides@ucl.ac.uk</email></contrib></contrib-group><?date-created 20181004?><?date-updated 20251204?><?date-revised 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lca-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Clinical_Characteristics_of_Nonsy\"><title> Clinical Characteristics of Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Clinical_Characteristics_of_Nonsy\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Causes_of_Nonsyndromic_Leber_Cong\"><title> Causes of Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Causes_of_Nonsyndromic_Leber_Cong\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Differential_Diagnosis_of_Nonsynd\"><title> Differential Diagnosis of Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Differential_Diagnosis_of_Nonsynd\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Evaluation_Strategies_to_Identify\"><title> Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Evaluation_Strategies_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Management_of_Nonsyndromic_Leber\"><title> Management of Nonsyndromic Leber Congenital Amaurosis&#x000a0;/ Early-Onset Severe Retinal Dystrophy Based on Genetic Cause</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Management_of_Nonsyndromic_Leber\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lca-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lca-ov\" document-type=\"chapter\" object-id=\"lca-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mhs\"><title>Nonsyndromic Malignant Hyperthermia Susceptibility</title><subtitle content-type=\"alt-title\">Synonym: Malignant Hyperpyrexia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Riazi</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Professor, Department of Anesthesia<break/>University of Toronto<break/>Toronto, Ontario</aff><email>sheila.riazi@uhn.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biesecker</surname><given-names>Leslie G</given-names></name><degrees>MD</degrees><aff>Center for Precision Health Research<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>lesb@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rosenberg</surname><given-names>Henry</given-names></name><degrees>MD</degrees><aff>President Emeritus of MHAUS and Courtesy Clinical Professor of Anesthesiology<break/>University of Florida<break/>Gainesville, Florida</aff><email>henryrosenberg@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dirksen</surname><given-names>Robert T</given-names></name><degrees>PhD</degrees><aff>Professor, Department of Pharmacology and Physiology<break/>University of Rochester Medical Center<break/>Rochester, New York</aff><email>robert_dirksen@urmc.rochester.edu</email></contrib></contrib-group><?date-created 20031219?><?date-updated 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mhs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mhs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mhs\" document-type=\"chapter\" object-id=\"mhs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rp-overview\"><title>Nonsyndromic Retinitis Pigmentosa Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fahim</surname><given-names>Abigail T</given-names></name><degrees>MD, PhD</degrees><aff>Kellogg Eye Center<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>ahteich@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Daiger</surname><given-names>Stephen P</given-names></name><degrees>PhD</degrees><aff>Professor, Human Genetics Center<break/>School of Public Health<break/>Ruiz Department of Ophthalmology and Visual Science<break/>University of Texas Health Science Center<break/>Houston, Texas</aff><email>stephen.p.daiger@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weleber</surname><given-names>Richard G</given-names></name><degrees>MD, DABMG, FACMG</degrees><aff>Professor, Department of Ophthalmology and Molecular and Medical Genetics<break/>Oregon Retinal Degeneration Center<break/>Casey Eye Institute<break/>Oregon Health Sciences University<break/>Portland, Oregon</aff><email>weleberr@ohsu.edu</email></contrib></contrib-group><?date-created 20000804?><?date-updated 20170119?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rp-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of Nonsyndromic Retinitis Pigmentosa</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Causes_of_Nonsyndromic_Retin\"><title> Causes of Nonsyndromic Retinitis Pigmentosa</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Causes_of_Nonsyndromic_Retin\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Evaluation_Strategy_to_Ident\"><title> Evaluation Strategy to Identify the Genetic Cause of Nonsyndromic Retinitis Pigmentosa in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Evaluation_Strategy_to_Ident\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Management_of_Nonsyndromic_R\"><title> Management of Nonsyndromic Retinitis Pigmentosa</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Management_of_Nonsyndromic_R\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rp-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rp-overview\" document-type=\"chapter\" object-id=\"rp-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov\"><title>Nonsyndromic Tooth Agenesis Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Letra</surname><given-names>Ariadne</given-names></name><degrees>DDS, MS, PhD</degrees><email>ariadne.m.letra@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chiquet</surname><given-names>Brett</given-names></name><degrees>DDS, PhD</degrees><email>brett.t.chiquet@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hansen-Kiss</surname><given-names>Emily</given-names></name><degrees>MS, MA, CGC</degrees><email>emily.hansenkiss@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Menezes</surname><given-names>Simone</given-names></name><degrees>BS</degrees><email>simone.a.menezes@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunter</surname><given-names>Elizabeth</given-names></name><degrees>BS</degrees><email>elizabeth.c.hunter@uth.tmc.edu</email></contrib></contrib-group><?date-created 20210722?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tooth-agenesis-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Clinical_Characteristi\"><title> Clinical Characteristics of Nonsyndromic Tooth Agenesis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Causes_of_Nonsyndromic\"><title> Causes of Nonsyndromic Tooth Agenesis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Causes_of_Nonsyndromic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Evaluation_Strategies\"><title> Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Tooth Agenesis in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Evaluation_Strategies\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Genetic_Risk_Assessmen\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Genetic_Risk_Assessmen\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tooth-agenesis-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tooth-agenesis-ov\" document-type=\"chapter\" object-id=\"tooth-agenesis-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_noonan\"><title>Noonan Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roberts</surname><given-names>Amy E</given-names></name><degrees>MD</degrees><aff>Co-Director, Center for Cardiovascular Genetics<break/>Department of Cardiology and Division of Genetics<break/>Department of Pediatrics<break/>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>amy.roberts@cardio.chboston.org</email></contrib></contrib-group><?date-created 20011115?><?date-updated 20211216?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_noonan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_noonan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"noonan\" document-type=\"chapter\" object-id=\"noonan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_leopard\"><title>Noonan Syndrome with Multiple Lentigines</title><subtitle content-type=\"alt-title\">Synonyms: LEOPARD Syndrome, Multiple Lentigines Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gelb</surname><given-names>Bruce D</given-names></name><degrees>MD</degrees><aff>Departments of Pediatrics and Genetics and Genomic SciencesMindich Child Health and Development InstituteIcahn School of Medicine at Mount SinaiNew York, New York</aff><email>bruce.gelb@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tartaglia</surname><given-names>Marco</given-names></name><degrees>PhD</degrees><aff>Genetics and Rare Disease Research DivisionBambino Ges&#x000fa; Children&#x02019;s Hospital IRCSSRome, Italy</aff><email>marco.tartaglia@opbg.net</email></contrib></contrib-group><?date-created 20071130?><?date-updated 20220630?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_leopard.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leopard.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leopard\" document-type=\"chapter\" object-id=\"leopard.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lms\"><title><italic toggle=\"yes\">NOTCH3</italic>-Related Lateral Meningocele Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Lehman Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ejaz</surname><given-names>Resham</given-names></name><degrees>MD, FRCPC</degrees><aff>Division of Genetics<break/>Department of Pediatrics<break/>McMaster Children&#x02019;s Hospital<break/>Hamilton, Ontario, Canada</aff><email>ejazr@mcmaster.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carter</surname><given-names>Melissa</given-names></name><degrees>MD, MSc</degrees><aff>The Children&#x02019;s Hospital of Eastern Ontario<break/>Ottawa, Canada</aff><email>mcarter@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gripp</surname><given-names>Karen</given-names></name><degrees>MD</degrees><aff>Alfred I DuPont Hospital for Children<break/>Wilmington, Delaware</aff><email>karen.gripp@nemours.org</email></contrib></contrib-group><?date-created 20160623?><?date-updated 20220505?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lms\" document-type=\"chapter\" object-id=\"lms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ahc\"><title><italic toggle=\"yes\">NR0B1-</italic>Related Adrenal Hypoplasia Congenita</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Achermann</surname><given-names>John C</given-names></name><degrees>MB, MD, PhD, FRCPCH</degrees><aff>Genetics and Genomic Medicine\nUCL Great Ormond Street Institute of Child Health\nUniversity College London\nLondon, United Kingdom</aff><email>j.achermann@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vilain</surname><given-names>Eric J</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Center for Genetic Medicine Research\nChildren's National Medical Center\nWashington, DC</aff><email>evilain@childrensnational.org</email></contrib></contrib-group><?date-created 20011120?><?date-updated 20180125?><?date-revised 20090507?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ahc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ahc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ahc\" document-type=\"chapter\" object-id=\"ahc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nr2f1-ndd\"><title><italic toggle=\"yes\">NR2F1</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaaf</surname><given-names>Christian P</given-names></name><degrees>MD, PhD</degrees><email>christian.schaaf@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yu-Wai-Man</surname><given-names>Patrick</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCOphth</degrees><email>py237@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valentin</surname><given-names>Ilia</given-names></name><degrees>MD</degrees><email>ilia.valentin@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20221208?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nr2f1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nr2f1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nr2f1-ndd\" document-type=\"chapter\" object-id=\"nr2f1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nsdhl-dis\"><title><italic toggle=\"yes\">NSDHL</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurban</surname><given-names>Mazen</given-names></name><degrees>MD</degrees><aff>Tenured Professor of Dermatology<break/>Biochemistry and Molecular Genetics<break/>American University of Beirut Medical Center<break/>Beirut, Lebanon</aff><email>mk104@aub.edu.lb</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El Feghaly</surname><given-names>Jinia</given-names></name><degrees>MD</degrees><aff>Assistant Professor of Dermatology and Pediatrics<break/>University of Rochester Medical Center<break/>Rochester, New York</aff><email>jiniaelfeghalymd@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hamie</surname><given-names>Lamiaa</given-names></name><degrees>MD, MSc</degrees><aff>Specialist Dermatologist<break/>Mediclinic Middle East<break/>Dubai, United Arab Emirates</aff><email>dr.lamiaahamie@outlook.com</email></contrib></contrib-group><?date-created 20110201?><?date-updated 20240905?><?date-revised 20120216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nsdhl-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nsdhl-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nsdhl-dis\" document-type=\"chapter\" object-id=\"nsdhl-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nthl1-ts\"><title><italic toggle=\"yes\">NTHL1</italic> Tumor Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">NTHL1</italic>-Associated Polyposis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Voer</surname><given-names>Richarda M</given-names></name><degrees>PhD</degrees><email>richarda.devoer@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nielsen</surname><given-names>Maartje</given-names></name><degrees>MD, PhD</degrees><email>m.nielsen@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gao</surname><given-names>Weilun</given-names></name><degrees>MD</degrees><email>alan.gao@mh.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kuiper</surname><given-names>Roland P</given-names></name><degrees>PhD</degrees><email>r.kuiper@prinsesmaximacentrum.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoogerbrugge</surname><given-names>Nicoline</given-names></name><degrees>MD, PhD</degrees><email>nicoline.hoogerbrugge@radboudumc.nl</email></contrib></contrib-group><?date-created 20200402?><?date-updated 20250320?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nthl1-ts.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nthl1-ts.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nthl1-ts\" document-type=\"chapter\" object-id=\"nthl1-ts.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hsan4\"><title><italic toggle=\"yes\">NTRK1</italic> Congenital Insensitivity to Pain with Anhidrosis</title><subtitle content-type=\"alt-title\">Synonym: Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Indo</surname><given-names>Yasuhiro</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>Kumamoto University Hospital<break/>Kumamoto, Japan</aff><email>yindo@kumamoto-u.ac.jp</email></contrib></contrib-group><?date-created 20080805?><?date-updated 20200430?><?date-revised 20091124?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hsan4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsan4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsan4\" document-type=\"chapter\" object-id=\"hsan4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_leigh-nucl-ov\"><title>Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rahman</surname><given-names>Shamima</given-names></name><degrees>FRCP, FRCPCH, PhD</degrees><email>shamima.rahman@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thorburn</surname><given-names>David R</given-names></name><degrees>PhD</degrees><email>david.thorburn@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ball</surname><given-names>Megan</given-names></name><degrees>MD</degrees><email>megan.ball@mcri.edu.au</email></contrib></contrib-group><?date-created 20151001?><?date-updated 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_leigh-nucl-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Clinical_Characteristics_o\"><title> Clinical Characteristics of Nuclear Gene-Encoded Leigh Syndrome Spectrum</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Clinical_Characteristics_o\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Causes_of_Nuclear_GeneEnco\"><title> Causes of Nuclear Gene-Encoded Leigh Syndrome Spectrum</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Causes_of_Nuclear_GeneEnco\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Differential_Diagnosis_of\"><title> Differential Diagnosis of Nuclear Gene-Encoded Leigh Syndrome Spectrum</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Differential_Diagnosis_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Evaluation_Strategies_to_I\"><title> Evaluation Strategies to Identify the Genetic Cause of Nuclear Gene-Encoded Leigh Syndrome Spectrum in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Evaluation_Strategies_to_I\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Management_of_Nuclear_Gene\"><title> Management of Nuclear Gene-Encoded Leigh Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Management_of_Nuclear_Gene\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_leigh-nucl-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"leigh-nucl-ov\" document-type=\"chapter\" object-id=\"leigh-nucl-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-O?><toc-entry id=\"toc_oca-oa-ov\"><title>Oculocutaneous Albinism and Ocular Albinism Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thomas</surname><given-names>Mervyn G</given-names></name><degrees>MBChB, PhD, FRCOphth</degrees><aff>Ulverscroft Eye Unit<break/>College of Life Sciences<break/>School of Psychology and Vision Sciences<break/>University of Leicester<break/>Leicester, UK</aff><email>mt350@le.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zippin</surname><given-names>Jonathan</given-names></name><degrees>MD, PhD</degrees><aff>Department of Dermatology<break/>Joan and Sanford I Weill Medical College of Cornell University<break/>New York, New York</aff><email>jhzippin@med.cornell.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brooks</surname><given-names>Brian P</given-names></name><degrees>MD, PhD</degrees><aff>Ophthalmic Genetics and Visual Function Branch<break/>National Eye Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>brooksb@nei.nih.gov</email></contrib></contrib-group><?date-created 20230413?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_oca-oa-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Clinical_Characteristics_of_Oc\"><title> Clinical Characteristics of Oculocutaneous Albinism and Ocular Albinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Clinical_Characteristics_of_Oc\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Genetic_Causes_of_Oculocutaneo\"><title> Genetic Causes of Oculocutaneous Albinism and Ocular Albinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Genetic_Causes_of_Oculocutaneo\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Differential_Diagnosis_of_Ocul\"><title> Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular Albinism</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Differential_Diagnosis_of_Ocul\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Evaluation_Strategies_to_Ident\"><title> Evaluation Strategies to Identify the Genetic Cause of Oculocutaneous Albinism or Ocular Albinism in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Evaluation_Strategies_to_Ident\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca-oa-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca-oa-ov\" document-type=\"chapter\" object-id=\"oca-oa-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_oca4\"><title>Oculocutaneous Albinism Type 4</title><subtitle content-type=\"alt-title\">Synonyms: OCA4, <italic toggle=\"yes\">SLC45A2</italic>-Related Oculocutaneous Albinism</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Suzuki</surname><given-names>Tamio</given-names></name><degrees>MD, PhD</degrees><email>tamsuz@med.id.yamagata-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Okamura</surname><given-names>Ken</given-names></name><degrees>MD, PhD</degrees><email>k-okamura@med.id.yamagata-u.ac.jp</email></contrib></contrib-group><?date-created 20051117?><?date-updated 20260212?><?date-revised 20110915?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_oca4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_oca4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"oca4\" document-type=\"chapter\" object-id=\"oca4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_opmd\"><title>Oculopharyngeal Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonym: OPMD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trollet</surname><given-names>Capucine</given-names></name><degrees>PhD</degrees><email>capucine.trollet@upmc.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boulinguiez</surname><given-names><?break?>Alexis</given-names></name><degrees>PhD</degrees><email>alexis.boulinguiez@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roth</surname><given-names>Fanny</given-names></name><degrees>PhD</degrees><email>fanny.roth0106@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stojkovic</surname><given-names>Tanya</given-names></name><degrees>MD</degrees><email>stojkovic.tanya@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Butler-Browne</surname><given-names>Gillian</given-names></name><degrees>PhD</degrees><email>gillian.butler-browne@upmc.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evangelista</surname><given-names>Teresinha</given-names></name><degrees>MD</degrees><email>t.evangelista@institut-myologie.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lacau St Guily</surname><given-names>Jean</given-names></name><degrees>MD</degrees><email>jean.lacau@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Richard</surname><given-names>Pascale</given-names></name><degrees>PharmD, PhD</degrees><email>pascale.richard@aphp.fr</email></contrib></contrib-group><?date-created 20010308?><?date-updated 20201022?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_opmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_opmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"opmd\" document-type=\"chapter\" object-id=\"opmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_okur-chung\"><title>Okur-Chung Neurodevelopmental Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">CSNK2A1</italic>-Related Neurodevelopmental Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Wendy</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Departments of Pediatrics and Medicine<break/>Columbia University<break/>New York, New York</aff><email>wkc15@columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Okur</surname><given-names>Volkan</given-names></name><degrees>MD, FACMG</degrees><aff>New York Genome Center<break/>New York, New York</aff><email>vokur@nygenome.org</email></contrib></contrib-group><?date-created 20220609?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_okur-chung.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_okur-chung.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"okur-chung\" document-type=\"chapter\" object-id=\"okur-chung.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ofd1\"><title>Oral-Facial-Digital Syndrome Type I</title><subtitle content-type=\"alt-title\">Synonyms: OFD1, Orofaciodigital Syndrome I</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Franco</surname><given-names>Brunella</given-names></name><degrees>MD</degrees><aff>Principal Investigator, Telethon Institute of Genetics and Medicine;<break/>Professor, Medical Genetics<break/>Department of Translational Medical Sciences<break/>University of Naples Federico II<break/>Naples, Italy</aff><email>franco@tigem.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bruel</surname><given-names>Ange-Line</given-names></name><degrees>PhD</degrees><aff>Research Engineer, Genetics of Disorders of Development Team<break/>University of Burgundy<break/>Dijon, France</aff><email>angeline.bruel@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thauvin-Robinet</surname><given-names>Christel</given-names></name><degrees>MD, PhD</degrees><aff>Assistant and Research Investigator, University Hospital Federation - Translational Medicine and Developmental Anomalies;<break/>Professor, Medical Genetics<break/>Children's Hospital Genetic Center<break/>Genetics of Disorders of Development Team<break/>University of Burgundy<break/>Dijon, France</aff><email>christel.thauvin@chu-dijon.fr</email></contrib></contrib-group><?date-created 20020724?><?date-updated 20230511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ofd1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ofd1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ofd1\" document-type=\"chapter\" object-id=\"ofd1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_otc-def\"><title>Ornithine Transcarbamylase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Ornithine Carbamoyltransferase Deficiency, OTC Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lichter-Konecki</surname><given-names>Uta</given-names></name><degrees>MD, PhD</degrees><email>uta.lichterkonecki@chp.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Caldovic</surname><given-names>Ljubica</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morizono</surname><given-names>Hiroki</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Simpson</surname><given-names>Kara</given-names></name><degrees>MS, CGC</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ah Mew</surname><given-names>Nicholas</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacLeod</surname><given-names>Erin</given-names></name><degrees>PhD, RD, LD</degrees></contrib></contrib-group><?date-created 20130829?><?date-updated 20211202?><?date-revised 20220526?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_otc-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_otc-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"otc-def\" document-type=\"chapter\" object-id=\"otc-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_og-dysp\"><title>Osteoglophonic Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">FGFR1</italic>-Related Osteoglophonic Dysplasia, Osteoglophonic Dwarfism, Fairbank-Keats Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Othman</surname><given-names>Amna A</given-names></name><degrees>MBBCh</degrees><email>amna.othman@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Babcock</surname><given-names>Holly E</given-names></name><degrees>MS</degrees><email>holly.babcock@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos R</given-names></name><degrees>MD</degrees><email>carlos.ferreira@nih.gov</email></contrib></contrib-group><?date-created 20240418?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_og-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_og-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"og-dysp\" document-type=\"chapter\" object-id=\"og-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_os-cs\"><title>Osteopathia Striata with Cranial Sclerosis</title><subtitle content-type=\"alt-title\">Synonyms: Horan-Beighton Syndrome, OS-CS, <italic toggle=\"yes\">AMER1</italic>-Related Osteopathia Striata with Cranial Sclerosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gear</surname><given-names>Russell</given-names></name><degrees>MBChB</degrees><email>russellgear@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><email>ravi.savarirayan@mcri.edu.au</email></contrib></contrib-group><?date-created 20210415?><?date-revised 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_os-cs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_os-cs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"os-cs\" document-type=\"chapter\" object-id=\"os-cs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dfnb9\"><title><italic toggle=\"yes\">OTOF</italic>-Related Hearing Loss</title><subtitle content-type=\"alt-title\">Synonyms: DFNB9, Otoferlin-Related Hearing Loss</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Azaiez</surname><given-names>Hela</given-names></name><degrees>PhD</degrees><email>hazaiez@iu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thorpe</surname><given-names>Ryan K</given-names></name><degrees>MD</degrees><email>ryan-thorpe@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Odell</surname><given-names>Amanda M</given-names></name><degrees>MS, LGC</degrees><email>amanda-odell@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><email>richard-smith@uiowa.edu</email></contrib></contrib-group><?date-created 20080229?><?date-updated 20250313?><?date-revised 20260521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dfnb9.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dfnb9.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dfnb9\" document-type=\"chapter\" object-id=\"dfnb9.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-P?><toc-entry id=\"toc_pc\"><title>Pachyonychia Congenita</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Frances JD</given-names></name><degrees>PhD</degrees><aff>Pachyonychia Congenita Project<break/>School of Life Sciences<break/>University of Dundee<break/>Dundee, Scotland, United Kingdom</aff><email>frances.smith@pachyonychia.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hansen</surname><given-names>C David</given-names></name><degrees>MD</degrees><aff>Department of Dermatology<break/>University of Utah<break/>Salt Lake City, Utah</aff><email>david.hansen@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hull</surname><given-names>Peter R</given-names></name><degrees>MD, PhD, FRCPC</degrees><aff>Division of Clinical Dermatology and Cutaneoous Science<break/>Dalhousie University<break/>Halifax, Nova Scotia, Canada</aff><email>peter.hull@dal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaspar</surname><given-names>Roger L</given-names></name><degrees>PhD</degrees><aff>Transderm, Inc<break/>Santa Cruz, California</aff><email>roger.kaspar@transderminc.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McLean</surname><given-names>WH Irwin</given-names></name><degrees>DSc, FRSE</degrees><aff>Division of Biological Chemistry and Drug Discovery<break/>School of Life Sciences<break/>University of Dundee<break/>Dundee, Scotland, United Kingdom</aff><email>w.h.i.mclean@dundee.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>O&#x02019;Toole</surname><given-names>Edel</given-names></name><degrees>MD, PhD, FRCPI, FRCP</degrees><aff>Centre for Cutaneous Research<break/>Barts &#x00026; the London School of Medicine and Dentistry<break/>Queen Mary University of London<break/>London, England, United Kingdom</aff><email>e.a.otoole@qmul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sprecher</surname><given-names>Eli</given-names></name><degrees>MD, PhD</degrees><aff>Department of Dermatology<break/>Tel Aviv Medical Center<break/>Tel Aviv, Israel</aff><email>elisp@tlvmc.gov.il</email></contrib></contrib-group><?date-created 20060127?><?date-updated 20171130?><?date-revised 20071206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc\" document-type=\"chapter\" object-id=\"pc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pacs1-ndd\"><title><italic toggle=\"yes\">PACS1</italic> Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: Schuurs-Hoeijmakers Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lusk</surname><given-names>Laina</given-names></name><degrees>MMSc, CGC</degrees><email>luskl@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Simone</given-names></name><degrees>MSc</degrees><email>shsmith1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Martin</surname><given-names>Christa</given-names></name><degrees>PhD, FACMG</degrees><email>clmartin1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Cora</given-names></name><degrees>PhD</degrees><email>cmtaylor1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Wendy</given-names></name><degrees>MD, PhD, FACMG</degrees><email>wkc15@columbia.edu</email></contrib></contrib-group><?date-created 20200716?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pacs1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pacs1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pacs1-ndd\" document-type=\"chapter\" object-id=\"pacs1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chrom17-lis\"><title><italic toggle=\"yes\">PAFAH1B1</italic>-Related Lissencephaly&#x000a0;/ Subcortical Band Heterotopia</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">LIS1</italic>-Related Lissencephaly&#x000a0;/ Subcortical Band Heterotopia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brock</surname><given-names>Stefanie</given-names></name><degrees>MD</degrees><aff>Department of Pathology<break/>Universitair Ziekenhuis Brussel;<break/>Neurogenetics Research Group<break/>Vrije Universiteit<break/>Brussels, Belgium</aff><email>stefanie.brock@uzbrussel.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobyns</surname><given-names>William B</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics (Genetics)<break/>University of Minnesota<break/>Minneapolis, Minnesota</aff><email>wbdobyns@umn.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jansen</surname><given-names>Anna</given-names></name><degrees>MD, PhD</degrees><aff>Pediatric Neurology Unit<break/>Department of Pediatrics<break/>Universitair Ziekenhuis Brussel;<break/>Neurogenetics Research Group<break/>Vrije Universiteit<break/>Brussels, Belgium</aff><email>anna.jansen@uzbrussel.be</email></contrib></contrib-group><?date-created 20090303?><?date-updated 20210325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chrom17-lis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chrom17-lis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chrom17-lis\" document-type=\"chapter\" object-id=\"chrom17-lis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pancreatitis-ov\"><title>Pancreatitis Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shelton</surname><given-names>Celeste</given-names></name><degrees>PhD, CGC</degrees><aff>Clinical Variant Scientist, Ariel Precision Medicine<break/>Pittsburgh, Pennsylvania</aff><email>cshelton@arielmedicine.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>LaRusch</surname><given-names>Jessica</given-names></name><degrees>PhD</degrees><aff>Lead Genetic Scientist, Ariel Precision Medicine<break/>Pittsburgh, Pennsylvania</aff><email>larusch@arielmedicine.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitcomb</surname><given-names>David C</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Medicine, Cell Biology &#x00026; Physiology, and Human Genetics<break/>Division of Gastroenterology, Hepatology, and Nutrition<break/>University of Pittsburgh &#x00026; University of Pittsburgh Medical Center<break/>Pittsburgh, Pennsylvania</aff><email>whitcomb@pitt.edu</email></contrib></contrib-group><?date-created 20140313?><?date-updated 20200702?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pancreatitis-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Pancreatitis_Definitions\"><title> Pancreatitis: Definitions</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Pancreatitis_Definitions\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Risk_Factors_and_Etiolog\"><title> Risk Factors and Etiologies of Recurrent Acute Pancreatitis&#x000a0;/ Chronic Pancreatitis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Risk_Factors_and_Etiolog\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Evaluation_Strategies_to\"><title> Evaluation Strategies to Identify Genetic Risk Factors in a Proband with Pancreatitis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Evaluation_Strategies_to\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Medical_Management_of_Pa\"><title> Medical Management of Pancreatitis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Medical_Management_of_Pa\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Genetic_Risk_Assessment\"><title> Genetic Risk Assessment</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Genetic_Risk_Assessment\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pancreatitis-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pancreatitis-ov\" document-type=\"chapter\" object-id=\"pancreatitis-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pkan\"><title>Pantothenate Kinase-Associated Neurodegeneration</title><subtitle content-type=\"alt-title\">Synonym: PKAN</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS, CGC</degrees><aff>Genetic Counselor and Assistant Professor<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><aff>Professor and Chair, Molecular and Medical Genetics<break/>Professor, Pediatrics and Neurology<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hayflick@ohsu.edu</email></contrib></contrib-group><?date-created 20020813?><?date-updated 20170803?><?date-revised 20080109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pkan.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkan.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkan\" document-type=\"chapter\" object-id=\"pkan.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_jpd\"><title>Parkin Type of Early-Onset Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonyms: PARK-<italic toggle=\"yes\">Parkin</italic>, <italic toggle=\"yes\">PRKN</italic> Parkinson Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Br&#x000fc;ggemann</surname><given-names>Norbert</given-names></name><degrees>MD</degrees><email>norbert.brueggemann@neuro.uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><email>christine.klein@neuro.uni-luebeck.de</email></contrib></contrib-group><?date-created 20010417?><?date-updated 20200423?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_jpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jpd\" document-type=\"chapter\" object-id=\"jpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_papr\"><title><italic toggle=\"yes\">PAX2</italic>-Related Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Papillorenal Syndrome, Renal Coloboma Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bower</surname><given-names>Matthew A</given-names></name><degrees>MS</degrees><aff>Division of Genetics and MetabolismUniversity of Minnesota Medical Center, FairviewMinneapolis, Minnesota</aff><email>mbower1@fairview.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schimmenti</surname><given-names>Lisa A</given-names></name><degrees>MD</degrees><aff>Professor, PediatricsSenior Associate Consultant, Otorhinolaryngology and Clinical GenomicsMayo ClinicRochester, Minnesota</aff><email>schimmenti.lisa@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eccles</surname><given-names>Michael R</given-names></name><degrees>PhD</degrees><aff>Professor and Chair in Cancer Pathology, Department of PathologyDunedin School of MedicineUniversity of OtagoDunedin, New Zealand</aff></contrib></contrib-group><?date-created 20070608?><?date-updated 20180208?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_papr.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_papr.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"papr\" document-type=\"chapter\" object-id=\"papr.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aniridia\"><title><italic toggle=\"yes\">PAX6</italic> Aniridia Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kit</surname><given-names>Vivienne</given-names></name><degrees>BSc, MBBS, FRCOphth</degrees><aff>Ophthalmology Registrar, North Thames Deanery<break/>NHS England<break/>London, United Kingdom</aff><email>vivienne.kit@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oluonye</surname><given-names>Ngozi</given-names></name><degrees>MBBS, MRCPCH, MSc</degrees><aff>Consultant Neurodevelopmental Paediatrician<break/>Great Ormond Street Hospital;<break/>Moorfields Eye Hospital<break/>London, United Kingdom</aff><email>n.oluonye@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moosajee</surname><given-names>Mariya</given-names></name><degrees>MBBS, BSc, PhD, FRCOphth</degrees><aff>Consultant Ophthalmologist<break/>Professor of Molecular Ophthalmology<break/>Moorfields Eye Hospital;<break/>UCL Institute of Ophthalmology<break/>London, United Kingdom</aff><email>m.moosajee@ucl.ac.uk</email></contrib></contrib-group><?date-created 20030520?><?date-updated 20260602?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aniridia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aniridia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aniridia\" document-type=\"chapter\" object-id=\"aniridia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chol-liver-ov\"><title>Pediatric Genetic Cholestatic Liver Disease Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Amendola</surname><given-names>Maria</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>UPMC Children's Hospital of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>maria.lanyi@chp.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Squires</surname><given-names>James E</given-names></name><degrees>MD, MS</degrees><aff>Department of Pediatric Gastroenterology and Hepatology<break/>UPMC Children's Hospital of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>james.squires2@chp.edu</email></contrib></contrib-group><?date-created 20220915?><?date-revised 20230525?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chol-liver-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Clinical_Characteristics_o\"><title> Clinical Characteristics of Genetic Cholestatic Liver Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Clinical_Characteristics_o\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Causes_of_Genetic_Cholesta\"><title> Causes of Genetic Cholestatic Liver Disease</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Causes_of_Genetic_Cholesta\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Evaluation_Strategies_to_I\"><title> Evaluation Strategies to Identify the Cause of a Genetic Cholestatic Liver Disease in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Evaluation_Strategies_to_I\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chol-liver-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chol-liver-ov\" document-type=\"chapter\" object-id=\"chol-liver-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pmld1\"><title>Pelizaeus-Merzbacher-Like Disease 1</title><subtitle content-type=\"alt-title\">Synonyms: Hypomyelinating Leukodystrophy 2 (HLD2), PMLD1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nahhas</surname><given-names>Norah</given-names></name><degrees>MD</degrees><email>nnahhas@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Conant</surname><given-names>Alex</given-names></name><degrees>BS</degrees><email>aconant@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Orthmann-Murphy</surname><given-names>Jennifer</given-names></name><degrees>MD, PhD</degrees><email>jorthma1@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanderver</surname><given-names>Adeline</given-names></name><degrees>MD</degrees><email>avanderv@cnmc.org</email><email>vandervera@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hobson</surname><given-names>Grace</given-names></name><degrees>PhD</degrees><email>ghobson@nemours.org</email></contrib></contrib-group><?date-created 20171221?><?date-revised 20190117?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pmld1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmld1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmld1\" document-type=\"chapter\" object-id=\"pmld1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds-pd\"><title>Periodontal Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: EDS Type VIII, pEDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kapferer-Seebacher</surname><given-names>Ines</given-names></name><degrees>DMD</degrees><email>ines.kapferer@i-med.ac.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Dijk</surname><given-names>Fleur S</given-names></name><degrees>MD, PhD</degrees><email>fleur.dijk@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zschocke</surname><given-names>Johannes</given-names></name><degrees>MD, PhD</degrees><email>johannes.zschocke@i-med.ac.at</email></contrib></contrib-group><?date-created 20210729?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds-pd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds-pd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds-pd\" document-type=\"chapter\" object-id=\"eds-pd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_dmn\"><title>Permanent Neonatal Diabetes Mellitus</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Le&#x000f3;n</surname><given-names>Diva D</given-names></name><degrees>MD, MSCE</degrees><aff>Professor of Pediatrics<break/>Children's Hospital of Philadelphia;<break/>Perelman School of Medicine at University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>deleon@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pinney</surname><given-names>Sara E</given-names></name><degrees>MD, MSTR</degrees><aff>Associate Professor of Pediatrics<break/>Children's Hospital of Philadelphia;<break/>Perelman School of Medicine at University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>pinneys@chop.edu</email></contrib></contrib-group><?date-created 20080208?><?date-updated 20241114?><?date-revised 20250925?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_dmn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_dmn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"dmn\" document-type=\"chapter\" object-id=\"dmn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_perrault\"><title>Perrault Syndrome Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Li</surname><given-names>Tianyi</given-names></name><degrees>MD, PhD</degrees><email>dr_lty@cqmu.edu.cn</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Faridi</surname><given-names>Rabia</given-names></name><degrees>PhD</degrees><email>rabia.faridi@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Newman</surname><given-names>William G</given-names></name><degrees>MD, PhD</degrees><email>william.newman@manchester.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Friedman</surname><given-names>Thomas B</given-names></name><degrees>PhD</degrees><email>friedman@nidcd.nih.gov</email></contrib></contrib-group><?date-created 20140925?><?date-updated 20250508?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_perrault.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Clinical_Characteristics_of_Per\"><title> Clinical Characteristics of Perrault Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Clinical_Characteristics_of_Per\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Genetic_Causes_of_Perrault_Synd\"><title> Genetic Causes of Perrault Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Genetic_Causes_of_Perrault_Synd\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Differential_Diagnosis_of_Perra\"><title> Differential Diagnosis of Perrault Syndrome</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Differential_Diagnosis_of_Perra\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Evaluation_Strategies_to_Identi\"><title> Evaluation Strategies to Identify the Genetic Cause of Perrault Syndrome in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Evaluation_Strategies_to_Identi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_perrault.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"perrault\" document-type=\"chapter\" object-id=\"perrault.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_peters-plus\"><title>Peters Plus Syndrome</title><subtitle content-type=\"alt-title\">Synonym: PTRPLS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reis</surname><given-names>Linda M</given-names></name><degrees>MS, LCGC</degrees><aff>Department of Ophthalmology<break/>Medical College of Wisconsin<break/>Milwaukee, Wisconsin</aff><email>lreis@mcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Levin</surname><given-names>Alex V</given-names></name><degrees>MD, MHSc</degrees><aff>Departments of Ophthalmology and Pediatrics<break/>Flaum Eye Institute<break/>Golisano Children's Hospital<break/>University of Rochester<break/>Rochester, New York</aff><email>alex_levin@urmc.rochester.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Basel</surname><given-names>Donald</given-names></name><degrees>MD</degrees><aff>Chief, Pediatric Genetics<break/>Medical College of Wisconsin;<break/>Children's Wisconsin<break/>Milwaukee, Wisconsin</aff><email>dbasel@mcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Semina</surname><given-names>Elena V</given-names></name><degrees>PhD</degrees><aff>Marjorie and Joseph Heil Professor of Ophthalmology &#x00026; Visual Sciences<break/>Departments of Ophthalmology, Pediatrics, and Cell Biology, Neurobiology, and Anatomy<break/>Medical College of Wisconsin<break/>Milwaukee, Wisconsin</aff><email>esemina@mcw.edu</email></contrib></contrib-group><?date-created 20071008?><?date-updated 20260407?><?date-revised 20250130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_peters-plus.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_peters-plus.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"peters-plus\" document-type=\"chapter\" object-id=\"peters-plus.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pjs\"><title>Peutz-Jeghers Syndrome</title><subtitle content-type=\"alt-title\">Synonym: PJS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McGarrity</surname><given-names>Thomas J</given-names></name><degrees>MD</degrees><aff>Department of Medicine\nMilton S Hershey Medical Center\nHershey, Pennsylvania</aff><email>tmcgarrity@psu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Amos</surname><given-names>Christopher I</given-names></name><degrees>PhD</degrees><aff>Department of Medicine\nBaylor College of Medicine\nHouston, Texas</aff><email>chris.amos@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baker</surname><given-names>Maria J</given-names></name><degrees>PhD</degrees><aff>Department of Medicine\nMilton S Hershey Medical Center;\nPenn State Hershey Cancer Institute\nHershey, Pennsylvania</aff><email>mbaker@pennstatehealth.psu.edu</email></contrib></contrib-group><?date-created 20010223?><?date-updated 20210902?><?date-revised 20040519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pjs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pjs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pjs\" document-type=\"chapter\" object-id=\"pjs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rcdp\"><title><italic toggle=\"yes\">PEX7-</italic>Related Rhizomelic Chondrodysplasia Punctata</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">PEX7-</italic>Rhizomelic CDP, Rhizomelic Chondrodysplasia Punctata Type 1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Braverman</surname><given-names>Nancy E</given-names></name><degrees>MS, MD</degrees><email>nancy.braverman@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carroll</surname><given-names>Ricki</given-names></name><degrees>MD, MBE</degrees><email>ricki.carroll@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Muss</surname><given-names>Candace</given-names></name><degrees>PA-C, LCGC</degrees><email>candace.muss@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fallatah</surname><given-names>Wedad</given-names></name><degrees>MD, MAS, PhD</degrees><email>fallatah@kennedykrieger.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jain</surname><given-names>Mahim</given-names></name><degrees>MD, PhD</degrees><email>mahim.jain@nemours.org</email></contrib></contrib-group><?date-created 20011116?><?date-updated 20250807?><?date-revised 20050207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rcdp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rcdp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rcdp\" document-type=\"chapter\" object-id=\"rcdp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gr_22q13_3\"><title>Phelan-McDermid Syndrome-<italic toggle=\"yes\">SHANK3</italic> Related</title><subtitle content-type=\"alt-title\">Synonym: 22q13.3 Deletion Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phelan</surname><given-names>Katy</given-names></name><degrees>PhD, FACMG</degrees><aff>Director of Genetics<break/>Florida Cancer Specialists and Research Institute<break/>Fort Myers, Florida</aff><email>kphelan@flcancer.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rogers</surname><given-names>R Curtis</given-names></name><degrees>MD, FACMG</degrees><aff>Senior Clinical Geneticist<break/>RCR Genetics<break/>Greenville, South Carolina</aff><email>rcrgenetics@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boccuto</surname><given-names>Luigi</given-names></name><degrees>MD</degrees><aff>Clinical Associate Professor<break/>Clemson University<break/>Clemson, South Carolina</aff><email>lboccut@clemson.edu</email></contrib></contrib-group><?date-created 20050511?><?date-updated 20240606?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gr_22q13_3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gr_22q13_3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gr_22q13_3\" document-type=\"chapter\" object-id=\"gr_22q13_3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pku\"><title>Phenylalanine Hydroxylase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Hyperphenylalaninemia, PAH Deficiency, Phenylketonuria (PKU)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arnold</surname><given-names>Georgianne</given-names></name><degrees>MD</degrees><aff>Virtual Medical Practice<break/>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>glarnold2757@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vockley</surname><given-names>Jerry</given-names></name><degrees>MD, PhD</degrees><aff>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>vockleyg@upmc.edu</email></contrib></contrib-group><?date-created 20000110?><?date-updated 20250313?><?date-revised 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pku.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pku.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pku\" document-type=\"chapter\" object-id=\"pku.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_arts\"><title>Phosphoribosylpyrophosphate Synthetase Deficiency</title><subtitle content-type=\"alt-title\">Synonym: PRS Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Brouwer</surname><given-names>Arjan PM</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Radboud University<break/>Nijmegen Medical Center<break/>Nijmegen, the Netherlands</aff><email>arjan.debrouwer@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christodoulou</surname><given-names>John</given-names></name><degrees>MBBS, PhD</degrees><aff>Director and Genomic Medicine Theme and Group Co-Leader<break/>Brain and Mitochondrial Research Group<break/>Murdoch Children's Research Institute;<break/>Chair of Genomic Medicine<break/>Department of Paediatrics<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>john.christodoulou@mcri.edu.au</email></contrib></contrib-group><?date-created 20081021?><?date-updated 20230608?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_arts.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_arts.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"arts\" document-type=\"chapter\" object-id=\"arts.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prs\"><title>Phosphoribosylpyrophosphate Synthetase Superactivity</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Brouwer</surname><given-names>Arjan PM</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Radboud University Nijmegen Medical Center<break/>Nijmegen, the Netherlands</aff><email>arjan.debrouwer@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christodoulou</surname><given-names>John</given-names></name><degrees>MBBS, PhD</degrees><aff>Director and Genetics Theme/Group Co-Leader, Brain and Mitochondrial Research Group<break/>Murdoch Children's Research Institute<break/>Chair in Genomic Medicine, Department of P&#x000e6;diatrics<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>john.christodoulou@mcri.edu.au</email></contrib></contrib-group><?date-created 20080923?><?date-updated 20220217?><?date-revised 20110111?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prs\" document-type=\"chapter\" object-id=\"prs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd9\"><title>Phosphorylase Kinase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Glycogen Storage Disease Type IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Herbert</surname><given-names>Mrudu</given-names></name><degrees>MD, MPH</degrees><aff>Department of Pediatrics<break/>University of Kentucky<break/>Lexington, Kentucky</aff><email>mrudu.herbert@uky.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldstein</surname><given-names>Jennifer L</given-names></name><degrees>PhD</degrees><aff>Department of Genetics<break/>University of North Carolina - Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>goldjen@email.unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rehder</surname><given-names>Catherine</given-names></name><degrees>PhD</degrees><aff>Molecular Genetics Laboratory<break/>Duke University Medical Center<break/>Durham, North Carolina</aff><email>catherine.rehder@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Austin</surname><given-names>Stephanie</given-names></name><degrees>MS, MA, CGC</degrees><aff>Amicus Therapeutics, Inc<break/>Phildelphia, Pennsylvania</aff><email>saustin@amicusrx.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kishnani</surname><given-names>Priya S</given-names></name><degrees>MD</degrees><aff>Clinical Genetics<break/>Department of Pediatrics<break/>Duke University Medical Center<break/>Durham, North Carolina</aff><email>priya.kishnani@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bali</surname><given-names>Deeksha S</given-names></name><degrees>PhD</degrees><aff>Biochemical Genetics Laboratory<break/>Duke University Medical Center<break/>Durham, North Carolina</aff><email>dbali@duke.edu</email></contrib></contrib-group><?date-created 20110531?><?date-updated 20181101?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd9.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd9.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd9\" document-type=\"chapter\" object-id=\"gsd9.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pi4ka\"><title><italic toggle=\"yes\">PI4KA</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baple</surname><given-names>Emma L</given-names></name><degrees>BSc, MBBS, MRCPCH, PhD</degrees><email>e.baple@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salter</surname><given-names>Claire</given-names></name><degrees>BMedSci, BMBS, PGCert, MRCPCH</degrees><email>c.salter@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uhlig</surname><given-names>Holm</given-names></name><email>holm.uhlig@ndm.ox.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolf</surname><given-names>Nicole I</given-names></name><degrees>MD, PhD</degrees><email>n.wolf@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crosby</surname><given-names>Andrew H</given-names></name><degrees>BSc, PhD</degrees><email>a.h.crosby@exeter.ac.uk</email></contrib></contrib-group><?date-created 20220811?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pi4ka.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pi4ka.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pi4ka\" document-type=\"chapter\" object-id=\"pi4ka.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth\"><title><italic toggle=\"yes\">PIK3CA</italic>-Related Overgrowth Spectrum</title><subtitle content-type=\"alt-title\">Synonym: PROS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Seattle Children's Research Institute<break/>Seattle, Washington</aff><email>ghayda.mirzaa@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Graham</surname><given-names>John M</given-names><suffix>Jr</suffix></name><degrees>MD, ScD</degrees><aff>Cedars Sinai Medical Center<break/>Los Angeles, California</aff><email>john.graham@cshs.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Keppler-Noreuil</surname><given-names>Kim</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>University of Wisconsin School of Medicine and Public Health<break/>Madison, Wisconsin</aff><email>kepplernoreu@wisc.edu</email></contrib></contrib-group><?date-created 20130815?><?date-updated 20211223?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pik3ca-overgrowth.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pik3ca-overgrowth.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pik3ca-overgrowth\" document-type=\"chapter\" object-id=\"pik3ca-overgrowth.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_short\"><title><italic toggle=\"yes\">PIK3R1</italic>-Related SHORT Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Innes</surname><given-names>A Micheil</given-names></name><degrees>MD, FRCPC, FCCMG</degrees><aff>Department of Medical Genetics<break/>University of Calgary;<break/>Alberta Children's Hospital Research Institute for Child and Maternal Health<break/>Calgary, Alberta, Canada</aff><email>micheil.innes@albertahealthservices.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Neufeld</surname><given-names>Stanley</given-names></name><degrees>PhD, MD</degrees><aff>Department of Medical Genetics<break/>University of Calgary<break/>Calgary, Alberta, Canada</aff><email>stanley.neufeld@albertahealthservices.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dyment</surname><given-names>David A</given-names></name><degrees>DPhil, MD, FRCPC, FCCMG</degrees><aff>Department of Genetics<break/>Children's Hospital of Eastern Ontario Research Institute<break/>Ottawa, Ontario, Canada</aff><email>ddyment@cheo.on.ca</email></contrib></contrib-group><?date-created 20140515?><?date-updated 20260108?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_short.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_short.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"short\" document-type=\"chapter\" object-id=\"short.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pink1-pd\"><title><italic toggle=\"yes\">PINK1</italic> Type of Young-Onset Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonym: PARK-<italic toggle=\"yes\">PINK1</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lange</surname><given-names>Lara M</given-names></name><degrees>MD</degrees><email>la.lange@uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><email>christine.klein@uni-luebeck.de</email></contrib></contrib-group><?date-created 20100316?><?date-updated 20240425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pink1-pd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pink1-pd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pink1-pd\" document-type=\"chapter\" object-id=\"pink1-pd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pitt-hopkins\"><title>Pitt-Hopkins Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">TCF4</italic>-Related Pitt-Hopkins Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sweetser</surname><given-names>David A</given-names></name><degrees>MD, PhD</degrees><aff>Division of Medical Genetics and Metabolism<break/>MassGeneral for Children;<break/>Center for Genomic Medicine<break/>Boston, Massachusetts</aff><email>dsweetser@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gipson</surname><given-names>Kevin S</given-names></name><degrees>MD, MS</degrees><aff>Division of Pediatric Pulmonology and Sleep Medicine<break/>MassGeneral for Children<break/>Boston, Massachusetts</aff><email>kgipson@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zar-Kessler</surname><given-names>Claire</given-names></name><degrees>MD, MPH</degrees><aff>Division of Pediatric Gastroenterology and Nutrition<break/>MassGeneral for Children<break/>Boston, Massachusetts</aff><email>czarkessler@mgh.harvard.edu</email></contrib></contrib-group><?date-created 20120830?><?date-updated 20250522?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pitt-hopkins.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pitt-hopkins.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pitt-hopkins\" document-type=\"chapter\" object-id=\"pitt-hopkins.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_inad\"><title><italic toggle=\"yes\">PLA2G6</italic>-Associated Neurodegeneration</title><subtitle content-type=\"alt-title\">Synonyms: NBIA2, <italic toggle=\"yes\">PLA2G6</italic>-Related Disorders, PLAN</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS, CGC</degrees><aff>Molecular &#x00026; Medical Genetics<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>MA, MRCPCH, PhD</degrees><aff>Molecular Neurosciences<break/>Developmental Neurosciences<break/>UCL-Great Ormond Street Institute of Child Health<break/>London, United Kingdom</aff><email>manju.kurian@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Soo</surname><given-names>Audrey KS</given-names></name><degrees>BSc, MBBS, MRCPCH, PhD</degrees><aff>Paediatric Neurology<break/>Great Ormond Street Hospital for Children;<break/>UCL-Great Ormond Street Institute of Child Health<break/>London, United Kingdom</aff><email>a.soo@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wilson</surname><given-names>Jenny L</given-names></name><degrees>MD</degrees><aff>Pediatric Neurology<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>wilsjen@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hogarth</surname><given-names>Penelope</given-names></name><degrees>MD</degrees><aff>Neurology and Molecular &#x00026; Medical Genetics<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hogarthp@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><aff>Molecular &#x00026; Medical Genetics, Pediatrics, and Neurology<break/>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>hayflick@ohsu.edu</email></contrib></contrib-group><?date-created 20080619?><?date-updated 20260414?><?date-revised 20150319?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_inad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_inad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"inad\" document-type=\"chapter\" object-id=\"inad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds6\"><title><italic toggle=\"yes\">PLOD1</italic>-Related Kyphoscoliotic Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Ehlers-Danlos Syndrome Type VIA (EDS VIA), Lysyl-Hydroxylase 1 Deficiency, <italic toggle=\"yes\">PLOD1-</italic>kEDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rohrbach</surname><given-names>Marianne</given-names></name><degrees>MD, PhD</degrees><email>marianne.rohrbach@kispi.uzh.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Giunta</surname><given-names>Cecilia</given-names></name><degrees>PhD</degrees><email>cecilia.giunta@kispi.uzh.ch</email></contrib></contrib-group><?date-created 20000202?><?date-updated 20240613?><?date-revised 20181018?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds6.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds6.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds6\" document-type=\"chapter\" object-id=\"eds6.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pmd\"><title><italic toggle=\"yes\">PLP1-</italic>Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolf</surname><given-names>Nicole I</given-names></name><degrees>MD, PhD</degrees><aff>Department of Child Neurology<break/>Amsterdam University Medical Center<break/>Amsterdam, The Netherlands</aff><email>n.wolf@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Spaendonk</surname><given-names>Rosalina ML</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Amsterdam University Medical Center<break/>Amsterdam, The Netherlands</aff><email>r.vervenne@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hobson</surname><given-names>Grace M</given-names></name><degrees>PhD</degrees><aff>Nemours Biomedical Research<break/>Nemours Hospital for Children<break/>Wilmington, Delaware</aff><email>ghobson@nemours.org</email></contrib></contrib-group><?date-created 19990615?><?date-updated 20250612?><?date-revised 20041007?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pmd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pmd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pmd\" document-type=\"chapter\" object-id=\"pmd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_plpbp-def\"><title>PLPBP Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: PLPHP Deficiency, PROSC Deficiency, Pyridoxal 5'-Phosphate Homeostasis Protein Deficiency, Pyridoxal 5'-Phosphate-Binding Protein Deficiency, PDE-<italic toggle=\"yes\">PLPBP</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Al-Shekaili</surname><given-names>Hilal</given-names></name><degrees>PhD</degrees><aff>Centre for Molecular Medicine and Therapeutics<break/>BC Children's Hospital Research Institute<break/>University of British Columbia<break/>Vancouver, Canada</aff><email>halshekaili@bcchr.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ciapaite</surname><given-names>Jolita</given-names></name><degrees>PhD</degrees><aff>Department of Genetics<break/>University Medical Center Utrecht<break/>Utrecht, the Netherlands</aff><email>j.ciapaite@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Karnebeek</surname><given-names>Clara</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Pediatrics and Human Genetics<break/>Emma Center for Personalized Medicine<break/>Amsterdam University Medical Centers<break/>Amsterdam, the Netherlands</aff><email>c.d.vankarnebeek@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pena</surname><given-names>Izabella</given-names></name><degrees>PhD</degrees><aff>Scientist, CHEO Research Institute;<break/>Assistant Professor, Faculty of Medicine, University of Ottawa<break/>Ottawa, Canada</aff><email>ipena@cheo.on.ca</email></contrib></contrib-group><?date-created 20230216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_plpbp-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plpbp-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plpbp-def\" document-type=\"chapter\" object-id=\"plpbp-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdg-1a\"><title>PMM2-CDG</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">CDG-Ia</italic>, Congenital Disorder of Glycosylation Type 1a (CDG1a), Phosphomannomutase 2 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lam</surname><given-names>Christina</given-names></name><degrees>MD</degrees><aff>University of Washington;<break/>Seattle Children&#x02019;s Research Institute<break/>Seattle, Washington</aff><email>ctlam2@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krasnewich</surname><given-names>Donna M</given-names></name><degrees>MD, PhD</degrees><aff>National Institutes of Health<break/>Bethesda, Maryland</aff><email>dkras@mail.nih.gov</email></contrib></contrib-group><?date-created 20050815?><?date-updated 20210520?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdg-1a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdg-1a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdg-1a\" document-type=\"chapter\" object-id=\"cdg-1a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pnpla6-dis\"><title><italic toggle=\"yes\">PNPLA6</italic> Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Synofzik</surname><given-names>Matthis</given-names></name><degrees>MD</degrees><aff>Department of Neurodegenerative Diseases<break/>Hertie Institute for Clinical Brain Research<break/>University of T&#x000fc;bingen<break/>T&#x000fc;bingen, Germany</aff><email>matthis.synofzik@uni-tuebingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hufnagel</surname><given-names>Robert B</given-names></name><degrees>MD, PhD</degrees><aff>National Eye Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>robert.hufnagel@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Z&#x000fc;chner</surname><given-names>Stephan</given-names></name><degrees>MD, PhD</degrees><aff>Dr John T Macdonald Foundation Department of Human Genetics<break/>John P Hussman Institute for Human Genomics<break/>University of Miami Miller School of Medicine<break/>Miami, Florida</aff><email>szuchner@med.miami.edu</email></contrib></contrib-group><?date-created 20141009?><?date-updated 20210610?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pnpla6-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpla6-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpla6-dis\" document-type=\"chapter\" object-id=\"pnpla6-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pnpo-def\"><title>PNPO Deficiency</title><subtitle content-type=\"alt-title\">Synonym: Pyridox(am)ine 5'-Phosphate Oxidase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Plecko</surname><given-names>Barbara</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics<break/>Service for Child Neurology and Inherited Metabolic Disorders<break/>Division of General Pediatrics<break/>Department of Pediatrics and Adolescent Medicine<break/>Medical University of Graz<break/>Graz, Austria</aff><email>barbara.plecko@medunigraz.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mills</surname><given-names>Philippa</given-names></name><degrees>PhD</degrees><aff>Professor of Inherited Metabolic Diseases<break/>University College London<break/>Great Ormond Street Institute of Child Health<break/>London, United Kingdom</aff><email>p.mills@ucl.ac.uk</email></contrib></contrib-group><?date-created 20220623?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pnpo-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pnpo-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pnpo-def\" document-type=\"chapter\" object-id=\"pnpo-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_poikiloderma-n\"><title>Poikiloderma with Neutropenia</title><subtitle content-type=\"alt-title\">Synonym: Clericuzio-Type Poikiloderma with Neutropenia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Lisa</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Hematology/Oncology<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>llwang@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Clericuzio</surname><given-names>Carol</given-names></name><degrees>MD</degrees><aff>Emeritus Professor of Pediatrics<break/>Division of Pediatric Genetics<break/>University of New Mexico School of Medicine<break/>Albuquerque, New Mexico</aff><email>cclericuzio@salud.unm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Larizza</surname><given-names>Lidia</given-names></name><degrees>MD</degrees><aff>Research Laboratory of Medical Cytogenetics &#x00026; Genetics<break/>IRCSS Istituto Auxologico Italiano<break/>Milan, Italy</aff><email>l.larizza@auxologico.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Concolino</surname><given-names>Daniela</given-names></name><degrees>MD</degrees><aff>Chief of Pediatrics<break/>University \"Magna Graecia\"<break/>Catanzaro, Italy</aff><email>dconcolino@unicz.it</email></contrib></contrib-group><?date-created 20171026?><?date-updated 20240222?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_poikiloderma-n.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poikiloderma-n.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poikiloderma-n\" document-type=\"chapter\" object-id=\"poikiloderma-n.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_alpers\"><title><italic toggle=\"yes\">POLG</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cohen</surname><given-names>Bruce H</given-names></name><degrees>MD</degrees><aff>NeuroDevelopmental Science Center and the Rebecca D Considine Research Institute<break/>Akron Children's Hospital<break/>Northeast Ohio Medical University<break/>Akron, Ohio</aff><email>bcohen@akronchildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chinnery</surname><given-names>Patrick F</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci</degrees><aff>Department of Clinical Neurosciences &#x00026; MRC Mitochondrial Biology Unit<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>pfc25@cam.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Copeland</surname><given-names>William C</given-names></name><degrees>PhD</degrees><aff>Mitochondrial DNA Replication Group<break/>Genome Integrity and Structural Biology Laboratory<break/>National Institute of Environmental Health Sciences&#x000a0;/ NIH<break/>Research Triangle Park, North Carolina</aff><email>copelan1@niehs.nih.gov</email></contrib></contrib-group><?date-created 20100316?><?date-updated 20240229?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_alpers.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_alpers.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"alpers\" document-type=\"chapter\" object-id=\"alpers.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pol3-leuk\"><title>POLR3-Related Leukodystrophy</title><subtitle content-type=\"alt-title\">Synonym: 4H Leukodystrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bernard</surname><given-names>Genevi&#x000e8;ve</given-names></name><degrees>MD, MSc, FRCPc</degrees><aff>Departments of Neurology and Neurosurgery and Pediatrics, McGill University<break/>Department of Medical Genetics, McGill University Health Center<break/>Child Health and Human Development Program, Research Institute of the McGill University Health Center<break/>Montreal, Quebec, Canada</aff><email>genevieve.bernard@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanderver</surname><given-names>Adeline</given-names></name><degrees>MD</degrees><aff>Division of Neurology<break/>Children's Research Institute<break/>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>vandervera@email.chop.edu</email></contrib></contrib-group><?date-created 20120802?><?date-updated 20170511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pol3-leuk.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pol3-leuk.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pol3-leuk\" document-type=\"chapter\" object-id=\"pol3-leuk.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pkd-ad\"><title>Polycystic Kidney Disease, Autosomal Dominant</title><subtitle content-type=\"alt-title\">Synonym: ADPKD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harris</surname><given-names>Peter C</given-names></name><degrees>PhD</degrees><email>harris.peter@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Torres</surname><given-names>Vicente E</given-names></name><degrees>MD, PhD</degrees><email>torres.vicente@mayo.edu</email></contrib></contrib-group><?date-created 20020110?><?date-updated 20220929?><?date-revised 20090602?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pkd-ad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pkd-ad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pkd-ad\" document-type=\"chapter\" object-id=\"pkd-ad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_plosl\"><title>Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</title><subtitle content-type=\"alt-title\">Synonyms: Nasu-Hakola Disease, PLOSL</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paloneva</surname><given-names>Juha</given-names></name><degrees>MD, PhD</degrees><aff>Oulu University Hospital;<break/>University of Oulu<break/>Oulu, Finland</aff><email>juha.paloneva@fimnet.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Autti</surname><given-names>Taina</given-names></name><degrees>MD, PhD</degrees><aff>University of Helsinki<break/>Helsinki Medical Imaging Center<break/>Helsinki, Finland</aff><email>taina.autti@hus.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Solje</surname><given-names>Eino</given-names></name><degrees>MD, PhD</degrees><aff>University of Eastern Finland; Kuopio University Hospital<break/>Kuopio, Finland</aff><email>eino.solje@uef.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haltia</surname><given-names>Matti J</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pathology<break/>Haartman Institute<break/>University of Helsinki<break/>Helsinki, Finland</aff><email>matti.j.haltia@helsinki.fi</email></contrib></contrib-group><?date-created 20020124?><?date-updated 20260407?><?date-revised 20090416?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_plosl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_plosl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"plosl\" document-type=\"chapter\" object-id=\"plosl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_poly\"><title>Polymicrogyria Overview &#x02013; RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stutterd</surname><given-names>Chloe A</given-names></name><degrees>MBBS, FRACP</degrees><aff>Murdoch Children's Research Institute<break/>Department of Paediatrics<break/>University of Melbourne<break/>Royal Children's Hospital<break/>Melbourne, Australia</aff><email>chloe.stutterd@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobyns</surname><given-names>William B</given-names></name><degrees>MD</degrees><aff>Departments of Pediatrics and Neurology<break/>University of Washington<break/>Center for Integrative Brain Research<break/>Seattle Children's Research Institute<break/>Seattle, Washington</aff><email>wbd@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jansen</surname><given-names>Anna</given-names></name><degrees>MD, PhD</degrees><aff>Pediatric Neurology Unit<break/>UZ Brussel<break/>Neurogenetics Research Group<break/>Vrije Universiteit Brussel<break/>Brussels, Begium</aff><email>anna.jansen@uzbrussel.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD</degrees><aff>Center for Integrative Brain Research<break/>Seattle Children's Research Institute<break/>Seattle, Washington</aff><email>gmirzaa@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leventer</surname><given-names>Richard J</given-names></name><degrees>MBBS, BMedSci, PhD, FRACP</degrees><aff>Department of Neurology<break/>Royal Children's Hospital<break/>Murdoch Children's Research Institute<break/>Department of Paediatrics<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>richard.leventer@rch.org.au</email></contrib></contrib-group><?date-created 20050418?><?date-updated 20180816?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_poly.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Definition_and_Clinical_Characteris\"><title> Definition and Clinical Characteristics of Polymicrogyria</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Definition_and_Clinical_Characteris\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Genetic_Causes_of_Polymicrogyria\"><title> Genetic Causes of Polymicrogyria</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Genetic_Causes_of_Polymicrogyria\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Evaluation_Strategy_to_Identify_the\"><title> Evaluation Strategy to Identify the Genetic Cause of PMG in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Evaluation_Strategy_to_Identify_the\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Genetic_Counseling_of_Family_Member\"><title> Genetic Counseling of Family Members of an Individual with PMG</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Genetic_Counseling_of_Family_Member\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_poly.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"poly\" document-type=\"chapter\" object-id=\"poly.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gsd2\"><title>Pompe Disease</title><subtitle content-type=\"alt-title\">Synonyms: Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, Glycogenosis Type II, Glycogen Storage Disease Type II (GSD II)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sperry</surname><given-names>Ethan</given-names></name><degrees>MD, PhD</degrees><email>ethan.sperry@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leslie</surname><given-names>Nancy</given-names></name><degrees>MD</degrees><email>nancy.leslie@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berry</surname><given-names>Lisa</given-names></name><degrees>MS</degrees><email>lisa.berry@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pena</surname><given-names>Loren</given-names></name><degrees>MD, PhD</degrees><email>loren.pena@alumni.duke.edu</email></contrib></contrib-group><?date-created 20070831?><?date-updated 20250821?><?date-revised 20080805?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gsd2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gsd2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gsd2\" document-type=\"chapter\" object-id=\"gsd2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_focal-dh\"><title><italic toggle=\"yes\">PORCN</italic>-Related Developmental Disorders</title><subtitle content-type=\"alt-title\">Synonyms: Focal Dermal Hypoplasia, Goltz Syndrome, Goltz-Gorlin Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sutton</surname><given-names>V Reid</given-names></name><degrees>MD</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>vrsutton@texaschildrens.org</email></contrib></contrib-group><?date-created 20080515?><?date-updated 20230615?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_focal-dh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_focal-dh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"focal-dh\" document-type=\"chapter\" object-id=\"focal-dh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pot1-tpd\"><title><italic toggle=\"yes\">POT1</italic> Tumor Predisposition</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Accardo</surname><given-names>Marie-Louise</given-names></name><degrees>MS, CGC</degrees><email>mvhenry@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Osborne</surname><given-names>Jenae</given-names></name><degrees>MS, CGC</degrees><email>jenaej@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Else</surname><given-names>Tobias</given-names></name><degrees>MD</degrees><email>telse@med.umich.edu</email></contrib></contrib-group><?date-created 20201029?><?date-updated 20250213?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pot1-tpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pot1-tpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pot1-tpd\" document-type=\"chapter\" object-id=\"pot1-tpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_potocki-lupski\"><title>Potocki-Lupski Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Duplication 17p11.2 Syndrome, PTLS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Potocki</surname><given-names>Lorraine</given-names></name><degrees>MD, FACMG</degrees><email>lpotocki@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Neira-Fresneda</surname><given-names>Juanita</given-names></name><degrees>MD</degrees><email>juanita.neira@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yuan</surname><given-names>Bo</given-names></name><degrees>PhD</degrees><email>by2@bcm.edu</email></contrib></contrib-group><?date-created 20170824?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_potocki-lupski.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Genetically_Related_Disor\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Genetically_Related_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_potocki-lupski.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"potocki-lupski\" document-type=\"chapter\" object-id=\"potocki-lupski.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm\"><title><italic toggle=\"yes\">PPP1R12A</italic>-Related Urogenital and/or Brain Malformation Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkhunaizi</surname><given-names>Ebba</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genetics<break/>North York General Hospital<break/>Toronto, Ontario, Canada</aff><email>ebba.alkhunaizi@mail.mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chitayat</surname><given-names>David</given-names></name><degrees>MD</degrees><aff>The Prenatal Diagnosis and Medical Genetics Program<break/>Department of Obstetrics and Gynecology<break/>Mount Sinai Hospital;<break/>Division of Clinical and Metabolic Genetics<break/>Department of Pediatrics<break/>The Hospital for Sick Children<break/>University of Toronto<break/>Toronto, Ontario, Canada</aff><email>david.chitayat@sinaihealth.ca</email></contrib></contrib-group><?date-created 20210909?><?date-revised 20240307?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ppp1r12a-ubm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r12a-ubm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r12a-ubm\" document-type=\"chapter\" object-id=\"ppp1r12a-ubm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ppp1r21-ndd\"><title><italic toggle=\"yes\">PPP1R21</italic>-Related El-Hattab-Schmidts Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: El-Hattab-Schmidts Syndrome; Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities (NEDHFBA)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Genetics and Precision Medicine Department (GPM)<break/>King Abdullah Specialized Children's Hospital (KASCH)<break/>King Abdulaziz Medical City<break/>Ministry of National Guard Health Affairs (MNG-HA)<break/>Riyadh, Saudi Arabia</aff><email>mmannai81@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marafi</surname><given-names>Dana</given-names></name><degrees>MD, MSc</degrees><aff>Assistant Professor, Department of Pediatrics<break/>College of Medicine<break/>Kuwait University<break/>Kuwait City, Kuwait</aff><email>dana.marafie@ku.edu.kw</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib></contrib-group><?date-created 20260122?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ppp1r21-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp1r21-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp1r21-ndd\" document-type=\"chapter\" object-id=\"ppp1r21-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd\"><title><italic toggle=\"yes\">PPP2R1A</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Douzgou</surname><given-names>Sofia</given-names></name><degrees>MD, PhD</degrees><email>sofia.douzgou.houge@helse-bergen.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Janssens</surname><given-names>Veerle</given-names></name><degrees>PhD</degrees><email>veerle.janssens@kuleuven.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houge</surname><given-names>Gunnar</given-names></name><degrees>MD, PhD</degrees><email>gunnar.douzgos.houge@helse-bergen.com</email></contrib></contrib-group><?date-created 20220512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ppp2r1a-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r1a-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r1a-ndd\" document-type=\"chapter\" object-id=\"ppp2r1a-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ppp2r5d-dis\"><title><italic toggle=\"yes\">PPP2R5D</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Jordan's Syndrome, PPP2 Syndrome Type R5D</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD</degrees><aff>University of Washington<break/>Seattle, Washington</aff><email>ghayda.mirzaa@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Foss</surname><given-names>Kimberly</given-names></name><degrees>MS, CGC</degrees><aff>University of North Carolina at Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>kimberly_foss@med.unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sudnawa</surname><given-names>Khemika</given-names></name><degrees>MD</degrees><aff>Phramongkutklao Hospital; Phramongkutklao College of Medicine<break/>Bangkok, Thailand</aff><email>k.sudnawa@pcm.ac.th</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chung</surname><given-names>Wendy K</given-names></name><degrees>MD, PhD</degrees><aff>Boston Children's Hospital;<break/>Harvard Medical School<break/>Boston, Massachusetts</aff><email>wendy.chung@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20190124?><?date-updated 20250109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ppp2r5d-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppp2r5d-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppp2r5d-dis\" document-type=\"chapter\" object-id=\"ppp2r5d-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pws\"><title>Prader-Willi Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Prader-Labhart-Willi Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Driscoll</surname><given-names>Daniel J</given-names></name><degrees>MD, PhD, FFACMGG, FAAP</degrees><aff>Professor of Pediatrics and Genetics<break/>Hayward Professor of Genetics Research<break/>University of Florida College of Medicine<break/>Gainesville, Florida</aff><email>driscdj@peds.ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miller</surname><given-names>Jennifer L</given-names></name><degrees>MD, MS, FAAP</degrees><aff>Professor of Pediatrics<break/>Division of Pediatric Endocrinology<break/>University of Florida College of Medicine<break/>Gainesville, Florida</aff><email>millejl@peds.ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cassidy</surname><given-names>Suzanne B</given-names></name><degrees>MD, FFACMGG</degrees><aff>Clinical Professor of Pediatrics<break/>Division of Medical Genetics<break/>University of California, San Francisco<break/>San Francisco, California</aff><email>suzannecassidy@comcast.net</email></contrib></contrib-group><?date-created 19981006?><?date-updated 20230309?><?date-revised 20260219?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pws.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pws.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pws\" document-type=\"chapter\" object-id=\"pws.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_me-ataxia\"><title><italic toggle=\"yes\">PRICKLE1</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mastrangelo</surname><given-names>Mario</given-names></name><degrees>MD, PhD</degrees><email>mario.mastrangelo@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Caputi</surname><given-names>Caterina</given-names></name><degrees>MD</degrees><email>caterina.caputi@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Esposito</surname><given-names>Dario</given-names></name><degrees>MD</degrees><email>dario.esposito@uniroma1.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leuzzi</surname><given-names>Vincenzo</given-names></name><degrees>MD</degrees><email>vincenzo.leuzzi@uniroma1.it</email></contrib></contrib-group><?date-created 20090908?><?date-updated 20220421?><?date-revised 20130110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_me-ataxia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_me-ataxia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"me-ataxia\" document-type=\"chapter\" object-id=\"me-ataxia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cdsp\"><title>Primary Carnitine Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Carnitine Deficiency, Carnitine Transport Defect (CTD), Carnitine Uptake Defect (CUD), Systemic Primary Carnitine Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Almannai</surname><given-names>Mohammed</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Genetics and Precision Medicine department (GPM)<break/>King Abdullah Specialized Children's Hospital (KASCH)<break/>King Abdulaziz Medical City<break/>Ministry of National Guard Health Affairs (MNG-HA)<break/>Riyadh, Saudi Arabia</aff><email>mmannai81@gmail.com</email></contrib></contrib-group><?date-created 20120315?><?date-updated 20241205?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cdsp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cdsp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cdsp\" document-type=\"chapter\" object-id=\"cdsp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pcd\"><title>Primary Ciliary Dyskinesia</title><subtitle content-type=\"alt-title\">Synonyms: Immotile Cilia Syndrome, Kartagener Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zariwala</surname><given-names><?break?>Maimoona A</given-names></name><degrees>MSc, PhD, FACMG</degrees><aff>Department of Pediatrics<break/>Marsico Lung Institute<break/>University of North Carolina at Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>zariwala@med.unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Despotes</surname><given-names>Katherine A</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Pediatric Pulmonary<break/>Department of Medicine<break/>Pulmonary and Critical Care Medicine<break/>University of North Carolina at Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>katherine.despotes@unchealth.unc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Davis</surname><given-names>Stephanie D</given-names></name><degrees>MD</degrees><aff>UNC Children&#x02019;s;<break/>Department of Pediatrics<break/>University of North Carolina at Chapel Hill<break/>Chapel Hill, North Carolina</aff><email>stephanie_davis@med.unc.edu</email></contrib></contrib-group><?date-created 20070124?><?date-updated 20250522?><?date-revised 20130228?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pcd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Clinical_Characteristics_of_Primary\"><title> Clinical Characteristics of Primary Ciliary Dyskinesia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Clinical_Characteristics_of_Primary\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Causes_of_Primary_Ciliary_Dyskinesia\"><title> Causes of Primary Ciliary Dyskinesia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Causes_of_Primary_Ciliary_Dyskinesia\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Differential_Diagnosis_of_Primary_Ci\"><title> Differential Diagnosis of Primary Ciliary Dyskinesia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Differential_Diagnosis_of_Primary_Ci\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Evaluation_Strategy_to_Identify_the\"><title> Evaluation Strategy to Identify the Genetic Cause of Primary Ciliary Dyskinesia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Evaluation_Strategy_to_Identify_the\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Genetic_Counseling_of_Family_Members\"><title> Genetic Counseling of Family Members of an Individual with Primary Ciliary Dyskinesia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Genetic_Counseling_of_Family_Members\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pcd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pcd\" document-type=\"chapter\" object-id=\"pcd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_coq10-def\"><title>Primary Coenzyme Q<sub>10</sub> Deficiency Overview</title><subtitle content-type=\"alt-title\">Synonym: Primary Ubiquinone Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salviati</surname><given-names><?break?>Leonardo</given-names></name><degrees>MD, PhD</degrees><email>leonardo.salviati@unipd.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trevisson</surname><given-names>Eva</given-names></name><degrees>MD, PhD</degrees><email>eva.trevisson@unipd.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Agosto</surname><given-names>Caterina</given-names></name><degrees>MD</degrees><email>caterina.agosto@aopd.veneto.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Doimo</surname><given-names>Mara</given-names></name><degrees>PhD</degrees><email>mara.doimo@unipd.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Navas</surname><given-names>Placido</given-names></name><degrees>PhD</degrees><email>pnavas@upo.es</email></contrib></contrib-group><?date-created 20170126?><?date-updated 20230608?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_coq10-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Clinical_Characteristics_of_Pr\"><title> Clinical Characteristics of Primary Coenzyme Q<sub>10</sub> Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Clinical_Characteristics_of_Pr\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Genetic_Causes_of_Primary_Coen\"><title> Genetic Causes of Primary Coenzyme Q<sub>10</sub> Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Genetic_Causes_of_Primary_Coen\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Differential_Diagnosis_of_Prim\"><title> Differential Diagnosis of Primary Coenzyme Q<sub>10</sub> Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Differential_Diagnosis_of_Prim\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Evaluation_Strategies_to_Ident\"><title> Evaluation Strategies to Identify the Genetic Cause of Primary Coenzyme Q<sub>10</sub> Deficiency in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Evaluation_Strategies_to_Ident\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_coq10-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"coq10-def\" document-type=\"chapter\" object-id=\"coq10-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pfcp\"><title>Primary Familial and Congenital Erythrocytosis</title><subtitle content-type=\"alt-title\">Synonyms: ECYT1, Familial Erythrocytosis Type 1, Primary Familial and Congenital Polycythemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prchal</surname><given-names>Josef</given-names></name><degrees>MD</degrees><aff>University of Utah; Huntsman Cancer Center;<break/>VA Health Care<break/>Salt Lake City, Utah</aff><email>josef.prchal@hsc.utah.edu</email></contrib></contrib-group><?date-created 20161110?><?date-updated 20250123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pfcp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pfcp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pfcp\" document-type=\"chapter\" object-id=\"pfcp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_bgc\"><title>Primary Familial Brain Calcification Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balck</surname><given-names>Alexander</given-names></name><degrees>MD</degrees><email>alexander.balck@uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Klein</surname><given-names>Christine</given-names></name><degrees>MD</degrees><email>christine.klein@uni-luebeck.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Westenberger</surname><given-names>Ana</given-names></name><degrees>PhD</degrees><email>ana.westenberger@uni-luebeck.de</email></contrib></contrib-group><?date-created 20040418?><?date-updated 20250918?><?date-revised 20141016?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_bgc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Clinical_Characteristics_of_Primary\"><title> Clinical Characteristics of Primary Familial Brain Calcification</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Clinical_Characteristics_of_Primary\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Genetic_Causes_of_Primary_Familial_B\"><title> Genetic Causes of Primary Familial Brain Calcification</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Genetic_Causes_of_Primary_Familial_B\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Differential_Diagnosis_of_Primary_Fa\"><title> Differential Diagnosis of Primary Familial Brain Calcification</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Differential_Diagnosis_of_Primary_Fa\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Primary Familial Brain Calcification in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_bgc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"bgc\" document-type=\"chapter\" object-id=\"bgc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ph1\"><title>Primary Hyperoxaluria Type 1</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milliner</surname><given-names>Dawn S</given-names></name><degrees>MD</degrees><email>milliner.dawn@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harris</surname><given-names>Peter C</given-names></name><degrees>PhD</degrees><email>harris.peter@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sas</surname><given-names>David J</given-names></name><degrees>DO</degrees><email>sas.david@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cogal</surname><given-names>Andrea G</given-names></name><degrees>BS</degrees><email>cogal.andrea@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lieske</surname><given-names>John C</given-names></name><degrees>MD</degrees><email>lieske.john@mayo.edu</email></contrib></contrib-group><?date-created 20020619?><?date-updated 20240815?><?date-revised 20251211?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ph1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph1\" document-type=\"chapter\" object-id=\"ph1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ph2\"><title>Primary Hyperoxaluria Type 2</title><subtitle content-type=\"alt-title\">Synonym: Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rumsby</surname><given-names>Gill</given-names></name><degrees>PhD, FRCPath</degrees><aff>Consultant Clinical Scientist, Clinical Biochemistr<break/>University College London Hospitals<break/>London, United Kingdom</aff><email>gill.rumsby@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hulton</surname><given-names>Sally-Anne</given-names></name><degrees>MD, FRCP, FRCPCH, MBBCh</degrees><aff>Consultant Nephrologist, Birmingham Children&#x02019;s Hospital<break/>NHS Foundation Trust<break/>Birmingham, United Kingdom</aff><email>sally.hulton@bch.nhs.uk</email></contrib></contrib-group><?date-created 20081202?><?date-updated 20171221?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ph2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph2\" document-type=\"chapter\" object-id=\"ph2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ph3\"><title>Primary Hyperoxaluria Type 3</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milliner</surname><given-names>Dawn S</given-names></name><degrees>MD</degrees><email>milliner.dawn@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harris</surname><given-names>Peter C</given-names></name><degrees>PhD</degrees><email>harris.peter@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sas</surname><given-names>David J</given-names></name><degrees>DO</degrees><email>sas.david@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lieske</surname><given-names>John C</given-names></name><degrees>MD</degrees><email>lieske.john@mayo.edu</email></contrib></contrib-group><?date-created 20150924?><?date-updated 20230209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ph3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ph3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ph3\" document-type=\"chapter\" object-id=\"ph3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mt-overview\"><title>Primary Mitochondrial Disorders Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chinnery</surname><given-names>Patrick F</given-names></name><degrees>BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci</degrees><aff>Department of Clinical Neurosciences<break/>University of Cambridge<break/>Cambridge, United Kingdom</aff><email>pfc25@medschl.cam.ac.uk</email></contrib></contrib-group><?date-created 20000608?><?date-updated 20210729?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mt-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of Mitochondrial Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Evaluation_Strategies_to_Ide\"><title> Evaluation Strategies to Identify the Genetic Cause of a Mitochondrial Disorder in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Evaluation_Strategies_to_Ide\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Patient_Care_Guidelines\"><title> Patient Care Guidelines</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Patient_Care_Guidelines\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mt-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mt-overview\" document-type=\"chapter\" object-id=\"mt-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pdhc-def-ov\"><title>Primary Pyruvate Dehydrogenase Complex Deficiency Overview</title><subtitle content-type=\"alt-title\">Synonyms: PDH Deficiency (PDHD), PDHC Deficiency, Pyruvate Dehydrogenase Complex Deficiency Disease (PDCDD), Pyruvate Dehydrogenase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ganetzky</surname><given-names>Rebecca</given-names></name><degrees>MD</degrees><email>ganetzkyr@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McCormick</surname><given-names>Elizabeth M</given-names></name><degrees>MS, LCGC</degrees><email>mccormicke@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Falk</surname><given-names>Marni J</given-names></name><degrees>MD</degrees><email>falkm@chop.edu</email></contrib></contrib-group><?date-created 20210617?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pdhc-def-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Clinical_Characteristics_of\"><title> Clinical Characteristics of Primary Pyruvate Dehydrogenase Complex Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Causes_of_Primary_Pyruvate_D\"><title> Causes of Primary Pyruvate Dehydrogenase Complex Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Causes_of_Primary_Pyruvate_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Differential_Diagnosis_of_Pr\"><title> Differential Diagnosis of Primary Pyruvate Dehydrogenase Complex Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Differential_Diagnosis_of_Pr\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Evaluation_Strategies_to_Ide\"><title> Evaluation Strategies to Identify the Genetic Cause of Primary Pyruvate Dehydrogenase Complex Deficiency in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Evaluation_Strategies_to_Ide\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Management_of_Pyruvate_Dehyd\"><title> Management of Pyruvate Dehydrogenase Complex Deficiency Based on Genetic Cause</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Management_of_Pyruvate_Dehyd\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Genetic_Risk_Assessment_of_F\"><title> Genetic Risk Assessment of Family Members of a Proband with Primary Pyruvate Dehydrogenase Complex Deficiency</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Genetic_Risk_Assessment_of_F\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdhc-def-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdhc-def-ov\" document-type=\"chapter\" object-id=\"pdhc-def-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_trimethylaminuria\"><title>Primary Trimethylaminuria</title><subtitle content-type=\"alt-title\">Synonyms: Fish Odor Syndrome, FMO3 Deficiency, TMAU, TMAuria</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Phillips</surname><given-names>Ian R</given-names></name><degrees>PhD</degrees><aff>Emeritus Professor of Molecular Biology<break/>School of Biological and Chemical Sciences<break/>Queen Mary, University of London<break/>Visiting Professor, Division of Biosciences<break/>University College London<break/>London, United Kingdom</aff><email>i.r.phillips@qmul.ac.uk</email><email>i.r.phillips@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shephard</surname><given-names>Elizabeth A</given-names></name><degrees>MSc, PhD</degrees><aff>Professor of Molecular Biology<break/>Department of Structural and Molecular Biology<break/>University College London<break/>London, United Kingdom</aff><email>e.shephard@ucl.ac.uk</email></contrib></contrib-group><?date-created 20071008?><?date-updated 20201105?><?date-revised 20080318?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_trimethylaminuria.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trimethylaminuria.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trimethylaminuria\" document-type=\"chapter\" object-id=\"trimethylaminuria.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_primrose\"><title>Primrose Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arora</surname><given-names>Veronica</given-names></name><degrees>MD</degrees><email>veronicaarora@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos R</given-names></name><degrees>MD, FACMG</degrees><email>carlos.ferreira@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dua Puri</surname><given-names>Ratna</given-names></name><degrees>MD</degrees><email>ratnadpuri@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Verma</surname><given-names>Ishwar Chandar</given-names></name><degrees>MD</degrees><email>icverma@gmail.com</email></contrib></contrib-group><?date-created 20210506?><?date-revised 20210617?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_primrose.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_primrose.Literature_Cited\"><title>Literature Cited</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"primrose\" document-type=\"chapter\" object-id=\"primrose.Literature_Cited\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epm1\"><title>Progressive Myoclonic Epilepsy Type 1</title><subtitle content-type=\"alt-title\">Synonyms: EPM1, Unverricht-Lundborg Disease (ULD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lehesjoki</surname><given-names>Anna-Elina</given-names></name><degrees>MD, PhD</degrees><aff>Folkh&#x000e4;lsan Research Center and University of Helsinki<break/>Helsinki, Finland</aff><email>anna-elina.lehesjoki@helsinki.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>K&#x000e4;lvi&#x000e4;inen</surname><given-names>Reetta</given-names></name><degrees>MD, PhD</degrees><aff>Kuopio Epilepsy Center<break/>Kuopio University Hospital<break/>Member, EpiCARE ERN<break/>University of Eastern Finland<break/>Kuopio, Finland</aff><email>reetta.kalviainen@kuh.fi</email></contrib></contrib-group><?date-created 20040624?><?date-updated 20200702?><?date-revised 20070918?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epm1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epm1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epm1\" document-type=\"chapter\" object-id=\"epm1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lafora\"><title>Progressive Myoclonus Epilepsy, Lafora Type</title><subtitle content-type=\"alt-title\">Synonyms: Lafora Body Disease, Lafora Disease, Progressive Myoclonic Epilepsy Type 2 (EPM2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Minassian</surname><given-names>Berge</given-names></name><degrees>MD</degrees><aff>University of Texas Southwestern<break/>Dallas, Texas</aff><email>berge.minassian@utsouthwestern.edu</email></contrib></contrib-group><?date-created 20071228?><?date-updated 20250123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lafora.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lafora.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lafora\" document-type=\"chapter\" object-id=\"lafora.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ppr-dysp\"><title>Progressive Pseudorheumatoid Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Progressive Pseudorheumatoid Arthropathy of Childhood, Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhavani</surname><given-names>Gandham SriLakshmi</given-names></name><degrees>MSc, PhD</degrees><email>gslbhavani2016@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Al Rashdi</surname><given-names>Samiya</given-names></name><degrees>MSc</degrees><email>samiya7@squ.edu.om</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shah</surname><given-names>Hitesh</given-names></name><degrees>MS</degrees><email>Hitesh.shah@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shukla</surname><given-names>Anju</given-names></name><degrees>MD, DM</degrees><email>anju.shukla@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dalal</surname><given-names>Ashwin</given-names></name><degrees>MD, DM</degrees><email>adalal@cdfd.org.in</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girisha</surname><given-names>Katta Mohan</given-names></name><degrees>MD, DM, PhD</degrees><email>g.kumar@squ.edu.om</email></contrib></contrib-group><?date-created 20151125?><?date-updated 20260407?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ppr-dysp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ppr-dysp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ppr-dysp\" document-type=\"chapter\" object-id=\"ppr-dysp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prolidase-def\"><title>Prolidase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rossignol</surname><given-names>Francis</given-names></name><degrees>MD</degrees><email>francis.rossignol@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Heng</given-names></name><degrees>MD, PhD</degrees><email>wang@ddcclinic.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos</given-names></name><degrees>MD</degrees><email>carlos.ferreira@nih.gov</email></contrib></contrib-group><?date-created 20150625?><?date-updated 20220707?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prolidase-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prolidase-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prolidase-def\" document-type=\"chapter\" object-id=\"prolidase-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prop1\"><title><italic toggle=\"yes\">PROP1</italic>-Related Combined Pituitary Hormone Deficiency</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">PROP1</italic>-Related CPHD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carvalho</surname><given-names>Luciani Renata</given-names></name><degrees>MD, PhD</degrees><email>luciani.carvalho@hc.fm.usp.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nishi</surname><given-names>Mirian Yumie</given-names></name><degrees>PhD</degrees><email>minishi@usp.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Correa</surname><given-names>Fernanda Azevedo</given-names></name><degrees>MD</degrees><email>fernandacorrea@usp.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moreira Marques</surname><given-names>Juliana</given-names></name><degrees>PhD</degrees><email>julianamoreira@usp.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arnhold</surname><given-names>Ivo Jorge Prado</given-names></name><degrees>MD</degrees><email>iarnhold@usp.br</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mendonca</surname><given-names>Berenice B</given-names></name><degrees>MD</degrees><email>beremen@usp.br</email></contrib></contrib-group><?date-created 20001207?><?date-updated 20220224?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prop1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prop1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prop1\" document-type=\"chapter\" object-id=\"prop1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_propionic-a\"><title>Propionic Acidemia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Galarreta Aima</surname><given-names>Carolina I</given-names></name><degrees>MD</degrees><email>carolina.galarretaaima@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shchelochkov</surname><given-names>Oleg A</given-names></name><degrees>MD</degrees><email>oleg.shchelochkov@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jerves Serrano</surname><given-names>Teodoro</given-names></name><degrees>MD</degrees><email>teodoro.jervesserrano@yale.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Venditti</surname><given-names>Charles P</given-names></name><degrees>MD, PhD</degrees><email>venditti@mail.nih.gov</email></contrib></contrib-group><?date-created 20120517?><?date-updated 20240926?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_propionic-a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_propionic-a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"propionic-a\" document-type=\"chapter\" object-id=\"propionic-a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_proteus\"><title>Proteus Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Biesecker</surname><given-names>Leslie G</given-names></name><degrees>MD</degrees><email>lesb@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sapp</surname><given-names>Julie C</given-names></name><degrees>ScM</degrees><email>sappj@mail.nih.gov</email></contrib></contrib-group><?date-created 20120809?><?date-updated 20230525?><?date-revised 20190110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_proteus.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_proteus.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"proteus\" document-type=\"chapter\" object-id=\"proteus.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ptt\"><title>Prothrombin Thrombophilia</title><subtitle content-type=\"alt-title\">Synonym: Prothrombin G20210A Thrombophilia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kujovich</surname><given-names>Jody L</given-names></name><degrees>MD</degrees><aff>Assistant Professor of Pediatrics and Medicine, Department of Pediatric Hematology/Oncology\nOregon Health and Science University\nPortland, Oregon</aff><email>kujovich@ohsu.edu</email></contrib></contrib-group><?date-created 20060725?><?date-updated 20210204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ptt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptt\" document-type=\"chapter\" object-id=\"ptt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prrt2-parox\"><title><italic toggle=\"yes\">PRRT2</italic>-Related Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yang</surname><given-names>Kathryn</given-names></name><degrees>MD, FRCPC</degrees><email>kathryn.yang@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quiroz</surname><given-names>Vincente</given-names></name><degrees>MD</degrees><email>vicente.quiroz@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20180111?><?date-updated 20240704?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prrt2-parox.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prrt2-parox.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prrt2-parox\" document-type=\"chapter\" object-id=\"prrt2-parox.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_prss1-hp\"><title><italic toggle=\"yes\">PRSS1</italic>-Related Hereditary Pancreatitis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Whitcomb</surname><given-names>David C</given-names></name><degrees>MD, PhD</degrees><aff>Medicine, Cell Biology &#x00026; Physiology, and Human Genetics<break/>University of Pittsburgh &#x00026; University of Pittsburgh Medical Center<break/>Pittsburgh, Pennsylvania</aff><email>whitcomb@pitt.edu</email></contrib></contrib-group><?date-created 20120301?><?date-updated 20250327?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_prss1-hp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_prss1-hp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"prss1-hp\" document-type=\"chapter\" object-id=\"prss1-hp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pha2\"><title>Pseudohypoaldosteronism Type II</title><subtitle content-type=\"alt-title\">Synonyms: Familial Hyperkalemic Hypertension, Gordon's Syndrome, PHAII</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ellison</surname><given-names>David H</given-names></name><degrees>MD</degrees><aff>Oregon Health &#x00026; Science University<break/>Portland, Oregon</aff><email>ellisond@ohsu.edu</email></contrib></contrib-group><?date-created 20111110?><?date-updated 20170216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pha2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pha2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pha2\" document-type=\"chapter\" object-id=\"pha2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pxe\"><title>Pseudoxanthoma Elasticum</title><subtitle content-type=\"alt-title\">Synonym: PXE</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Terry</surname><given-names>Sharon F</given-names></name><degrees>MA</degrees><aff>PXE International<break/>Washington, DC</aff><email>sterry@pxe.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Uitto</surname><given-names>Jouni</given-names></name><degrees>MD, PhD</degrees><aff>Thomas Jefferson University<break/>Philadelphia, Pennsylvania</aff><email>jouni.uitto@jefferson.edu</email></contrib></contrib-group><?date-created 20010605?><?date-updated 20200604?><?date-revised 20070402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pxe.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pxe.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pxe\" document-type=\"chapter\" object-id=\"pxe.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ptdss1-lmhd\"><title><italic toggle=\"yes\">PTDSS1</italic>-Related Lenz-Majewski Hyperostotic Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Lenz-Majewski Hyperostotic Dwarfism, Lenz-Majewski Hyperostotic Dysplasia, Lenz-Majewski Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Buasri</surname><given-names>Kochakorn</given-names></name><degrees>MD</degrees><email>kochakorn.buasri@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Slavotinek</surname><given-names>Anne</given-names></name><degrees>PhD, MBBS</degrees><email>anne.slavotinek@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wattanasirichaigoon</surname><given-names>Duangrurdee</given-names></name><degrees>MD</degrees><email>duangrurdee.wat@mahidol.ac.th</email></contrib></contrib-group><?date-created 20260312?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ptdss1-lmhd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptdss1-lmhd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptdss1-lmhd\" document-type=\"chapter\" object-id=\"ptdss1-lmhd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_phts\"><title><italic toggle=\"yes\">PTEN</italic> Hamartoma Tumor Syndrome</title><subtitle content-type=\"alt-title\">Synonym: PHTS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yehia</surname><given-names>Lamis</given-names></name><degrees>PhD</degrees><aff>Genomic Medicine Institute<break/>Cleveland Clinic<break/>Cleveland, Ohio</aff><email>yehial@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Eng</surname><given-names>Charis</given-names></name><degrees>MD, PhD</degrees><aff>Genomic Medicine Institute<break/>Cleveland Clinic;<break/>Department of Genetics &#x00026; Genome Sciences<break/>Case Western Reserve University School of Medicine<break/>Cleveland, Ohio</aff><email>engc@ccf.org</email></contrib></contrib-group><?date-created 20011129?><?date-updated 20210211?><?date-revised 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_phts.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_phts.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"phts\" document-type=\"chapter\" object-id=\"phts.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_jmc\"><title><italic toggle=\"yes\">PTH1R</italic>-Related Jansen Metaphyseal Chondrodysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Jansen Disease; Jansen Metaphyseal Dysplasia; Murk Jansen Metaphyseal Chondrodysplasia; <italic toggle=\"yes\">PTH1R</italic>-Related Metaphyseal Dysplasia, Jansen Type</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Obiezu</surname><given-names>Fiona</given-names></name><degrees>MD</degrees><email>fiona.obiezu@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boyce</surname><given-names>Alison</given-names></name><degrees>MD</degrees><email>alison.boyce@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>J&#x000fc;ppner</surname><given-names>Harald</given-names></name><degrees>MD</degrees><email>hjueppner@mgh.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jha</surname><given-names>Smita</given-names></name><degrees>MD</degrees><email>smita.jha@nih.gov</email></contrib></contrib-group><?date-created 20250710?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_jmc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_jmc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"jmc\" document-type=\"chapter\" object-id=\"jmc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ptps-def\"><title><italic toggle=\"yes\">PTS</italic>-Related Tetrahydrobiopterin Deficiency (PTPSD)</title><subtitle content-type=\"alt-title\">Synonyms: 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency, PTS Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Opladen</surname><given-names>Thomas</given-names></name><degrees>MD</degrees><aff>Center for Pediatric and Adolescent Medicine<break/>Department I<break/>Division of Pediatric Neurology and Metabolic Medicine<break/>Medical Faculty Heidelberg<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>thomas.opladen@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Longo</surname><given-names>Nicola</given-names></name><degrees>MD, PhD</degrees><aff>Division of Clinical Genetics<break/>Department of Human Genetics<break/>University of California Los Angeles<break/>Los Angeles, California</aff><email>nlongo@mednet.ucla.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Blau</surname><given-names>Nenad</given-names></name><degrees>PhD</degrees><aff>Division of Metabolism<break/>University Children's Hospital Zurich<break/>Zurich, Switzerland</aff><email>nenad.blau@kispi.uzh.ch</email></contrib></contrib-group><?date-created 20250710?><?date-revised 20260305?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ptps-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ptps-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ptps-def\" document-type=\"chapter\" object-id=\"ptps-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pf\"><title>Pulmonary Fibrosis Predisposition Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Garcia</surname><given-names>Christine Kim</given-names></name><degrees>MD, PhD</degrees><aff>Columbia University Medical Center<break/>New York, New York</aff><email>ckg2116@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Talbert</surname><given-names>Janet L</given-names></name><degrees>MS, CGC, LGC</degrees><aff>Vanderbilt University Medical Center<break/>Nashville, Tennessee</aff><email>janet.talbert@vumc.org</email></contrib></contrib-group><?date-created 20050121?><?date-updated 20210211?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Clinical_Characteristics_of_Pulmonary\"><title> Clinical Characteristics of Pulmonary Fibrosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Clinical_Characteristics_of_Pulmonary\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Genetic_Causes_of_Pulmonary_Fibrosis\"><title> Genetic Causes of Pulmonary Fibrosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Genetic_Causes_of_Pulmonary_Fibrosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Differential_Diagnosis_of_Pulmonary_F\"><title> Differential Diagnosis of Pulmonary Fibrosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Differential_Diagnosis_of_Pulmonary_F\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Evaluation_Strategies_to_Identify_the\"><title> Evaluation Strategies to Identify the Genetic Cause of Pulmonary Fibrosis in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Evaluation_Strategies_to_Identify_the\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Management_of_Pulmonary_Fibrosis\"><title> Management of Pulmonary Fibrosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Management_of_Pulmonary_Fibrosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pf\" document-type=\"chapter\" object-id=\"pf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pura-dis\"><title><italic toggle=\"yes\">PURA-</italic>Related Neurodevelopmental Disorders</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">PURA</italic>-Related Developmental and Epileptic Encephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reijnders</surname><given-names>Margot RF</given-names></name><degrees>MD, PhD</degrees><email>m.r.f.reijnders@erasmusmc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leventer</surname><given-names>Richard J</given-names></name><degrees>MBBS, BMedSci, PhD, FRACP</degrees><email>richard.leventer@rch.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lee</surname><given-names>Bo Hoon</given-names></name><degrees>MD</degrees><email>bohoon_lee@urmc.rochester.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baralle</surname><given-names>Diana</given-names></name><degrees>MBBS, MD, FRCP</degrees><email>d.baralle@soton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Selber</surname><given-names>Paulo</given-names></name><degrees>MD, SBOT, FRACS</degrees><email>selberpoffice@hss.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paciorkowski</surname><given-names>Alex R</given-names></name><degrees>MD, FACMG</degrees><email>alex_paciorkowski@urmc.rochester.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>St John</surname><given-names>Miya</given-names></name><degrees>BSc, MAppLing, MspPath, PhD</degrees><email>miya.stjohn@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela T</given-names></name><degrees>BSpPath (AudHons), PhD</degrees><email>angela.morgan@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anderson</surname><given-names>Mel</given-names></name><degrees>BEd<?break?>PGDip</degrees><email>mel.anderson@purafoundation.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hildebrand</surname><given-names>Michael S</given-names></name><degrees>PhD</degrees><email>michael.hildebrand@unimelb.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sanchez</surname><given-names>L Dengle</given-names></name><degrees>MD</degrees><email>lauren.sanchez@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunt</surname><given-names>David</given-names></name><degrees>MBBS, PhD, MRCP</degrees><email>david.hunt2@uhs.nhs.uk</email></contrib></contrib-group><?date-created 20170427?><?date-updated 20260325?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pura-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pura-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pura-dis\" document-type=\"chapter\" object-id=\"pura-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pycnodys\"><title>Pycnodysostosis</title><subtitle content-type=\"alt-title\">Synonyms: Pyknodysostosis, Toulouse-Lautrec Syndrome, <italic toggle=\"yes\">CTSK</italic>-Related Pyknodysostosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>LeBlanc</surname><given-names>Shannon</given-names></name><degrees>MBBS</degrees><email>shannon.leblanc@vcgs.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20201105?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pycnodys.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pycnodys.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pycnodys\" document-type=\"chapter\" object-id=\"pycnodys.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pds\"><title>Pyridoxine-Dependent Epilepsy &#x02013; <italic toggle=\"yes\">ALDH7A1</italic></title><subtitle content-type=\"alt-title\">Synonyms: AASADH Deficiency, ALDH7A1 Deficiency, Alpha Aminoadipic Semialdehyde (&#x003b1;-AASA) Dehydrogenase Deficiency, Antiquitin (ATQ) Deficiency, PDE-<italic toggle=\"yes\">ALDH7A1</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gospe</surname><given-names>Sidney M</given-names><suffix>Jr</suffix></name><degrees>MD, PhD</degrees><email>sgospe@uw.edu</email></contrib></contrib-group><?date-created 20011207?><?date-updated 20220922?><?date-revised 20120607?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pds\" document-type=\"chapter\" object-id=\"pds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pdc\"><title>Pyruvate Carboxylase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duque Lasio</surname><given-names>Maria Laura</given-names></name><degrees>MD</degrees><email>lduque@wustl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lehman</surname><given-names>April N</given-names></name><degrees>MD</degrees><email>april.lehman2@nationwidechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahmad</surname><given-names>Ayesha</given-names></name><degrees>MD</degrees><email>ayeshaah@med.umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bedoyan</surname><given-names>Jirair K</given-names></name><degrees>MD, PhD</degrees><email>jbedoyan@pitt.edu</email></contrib></contrib-group><?date-created 20090602?><?date-updated 20240530?><?date-revised 20150730?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pdc.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pdc.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pdc\" document-type=\"chapter\" object-id=\"pdc.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-R?><toc-entry id=\"toc_rab18-def\"><title>RAB18 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Handley</surname><given-names>Mark</given-names></name><degrees>PhD</degrees><email>m.handley@leeds.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sheridan</surname><given-names>Eamonn</given-names></name><degrees>MD</degrees><email>e.sheridan@leeds.ac.uk</email></contrib></contrib-group><?date-created 20180104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rab18-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab18-def.Chapter_Notes_1\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab18-def\" document-type=\"chapter\" object-id=\"rab18-def.Chapter_Notes_1\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rab32-pd\"><title><italic toggle=\"yes\">RAB32</italic>-Related Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonym: PARK-<italic toggle=\"yes\">RAB32</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chmiela</surname><given-names>Tomasz</given-names></name><degrees>MD, PhD</degrees><email>chmiela.tomasz@mayo.edu</email><email>tchmiela@sum.edu.pl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew K</given-names></name><degrees>MD</degrees><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20260122?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rab32-pd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rab32-pd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rab32-pd\" document-type=\"chapter\" object-id=\"rab32-pd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rere-dis\"><title><italic toggle=\"yes\">RERE</italic>-Related Disorders</title><subtitle content-type=\"alt-title\">Synonym: Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart (NEDBEH)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scott</surname><given-names>Daryl A</given-names></name><degrees>MD, PhD</degrees><aff>Molecular &#x00026; Human Genetics, Molecular Physiology &#x00026; Biophysics\nBaylor College of Medicine\nHouston, Texas</aff><email>dscott@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sherr</surname><given-names>Elliott H</given-names></name><degrees>MD, PhD</degrees><aff>Departments of Neurology &#x00026; Pediatrics\nWeill Institute of Neuroscience &#x00026; Institute of Human Genetics\nUniversity of California, San Francisco\nSan Francisco, California</aff><email>elliott.sherr@ucsf.edu</email></contrib></contrib-group><?date-created 20190321?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rere-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rere-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rere-dis\" document-type=\"chapter\" object-id=\"rere-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rvcl\"><title>Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations</title><subtitle content-type=\"alt-title\">Synonyms: Cerebroretinal Vasculopathy (CRV); Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke (HERNS); Hereditary Systemic Angiopathy (HSA); Hereditary Vascular Retinopathy (HVR); Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL); RVCL-S</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Boer</surname><given-names>Irene</given-names></name><degrees>MD</degrees><email>ideboer@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pelzer</surname><given-names>Nadine</given-names></name><degrees>MD, PhD</degrees><email>n.pelzer@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Terwindt</surname><given-names>Gisela</given-names></name><degrees>MD, PhD</degrees><email>g.m.terwindt@lumc.nl</email></contrib></contrib-group><?date-created 20190919?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rvcl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rvcl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rvcl\" document-type=\"chapter\" object-id=\"rvcl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_retinoblastoma\"><title>Retinoblastoma</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lohmann</surname><given-names>Dietmar R</given-names></name><degrees>MD</degrees><aff>Professor, Eye Oncogenetics Research Group<break/>Institute of Human Genetics<break/>University Hospital Essen<break/>Essen, Germany</aff><email>dlohmann@me.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gallie</surname><given-names>Brenda L</given-names></name><degrees>MD</degrees><aff>Professor, University of Toronto<break/>Retinoblastoma Program<break/>Hospital for Sick Children<break/>Toronto, Ontario, Canada</aff><email>brenda@gallie.ca</email></contrib></contrib-group><?date-created 20000718?><?date-updated 20230921?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_retinoblastoma.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoblastoma.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoblastoma\" document-type=\"chapter\" object-id=\"retinoblastoma.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rfc1-canvas\"><title><italic toggle=\"yes\">RFC1</italic> CANVAS&#x000a0;/ Spectrum Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cortese</surname><given-names>Andrea</given-names></name><degrees>MD, PhD</degrees><email>andrea.cortese@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reilly</surname><given-names>Mary M</given-names></name><degrees>MB, Bch, BAO, MD</degrees><email>m.reilly@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20201125?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rfc1-canvas.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rfc1-canvas.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rfc1-canvas\" document-type=\"chapter\" object-id=\"rfc1-canvas.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rtps\"><title>Rhabdoid Tumor Predisposition Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Rhabdoid Predisposition Syndrome, RTPS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nemes</surname><given-names>Karolina</given-names></name><degrees>MD, PhD</degrees><email>karolina.nemes@uk-augsburg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bens</surname><given-names>Susanne</given-names></name><degrees>MD</degrees><email>susanne.bens@uni-ulm.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bourdeaut</surname><given-names>Franck</given-names></name><degrees>MD, PhD</degrees><email>franck.bourdeaut@curie.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johann</surname><given-names>Pascal</given-names></name><degrees>MD</degrees><email>pascal.johann@uk-augsburg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kordes</surname><given-names>Uwe</given-names></name><degrees>MD</degrees><email>kordes@uke.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Siebert</surname><given-names>Reiner</given-names></name><degrees>MD, Prof</degrees><email>reiner.siebert@uni-ulm.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fr&#x000fc;hwald</surname><given-names>Michael C</given-names></name><degrees>MD, PhD, Prof</degrees><email>michael.fruehwald@uk-augsburg.de</email></contrib></contrib-group><?date-created 20171207?><?date-updated 20220512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rtps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rtps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rtps\" document-type=\"chapter\" object-id=\"rtps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_riboflavin-tn\"><title>Riboflavin Transporter Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cali</surname><given-names>Elisa</given-names></name><degrees>MD</degrees><email>e.cali@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dominik</surname><given-names>Natalia</given-names></name><degrees>BSc, MSc</degrees><email>n.dominik@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Manole</surname><given-names>Andreea</given-names></name><degrees>BSc, PhD</degrees><email>andreea.manole.13@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20150611?><?date-updated 20210408?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_riboflavin-tn.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_riboflavin-tn.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"riboflavin-tn\" document-type=\"chapter\" object-id=\"riboflavin-tn.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ritscher-schinzel\"><title>Ritscher-Schinzel Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: 3C Syndrome, Cranio-Cerebello-Cardiac Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Elliott</surname><given-names>Alison M</given-names></name><degrees>PhD, MS, CGC</degrees><aff>University of British Columbia<break/>Vancouver, British Columbia, Canada</aff><email>aelliott@bcchr.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chudley</surname><given-names>Albert</given-names></name><degrees>MD</degrees><aff>University of Manitoba<break/>Winnipeg, Manitoba, Canada</aff><email>abchudley@gmail.com</email></contrib></contrib-group><?date-created 20200123?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ritscher-schinzel.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ritscher-schinzel.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ritscher-schinzel\" document-type=\"chapter\" object-id=\"ritscher-schinzel.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rnu4-2-ndd\"><title><italic toggle=\"yes\">RNU4-2</italic>&#x02013;Related Autosomal Dominant Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: ReNU Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barbosa</surname><given-names>Mafalda</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Division of Medical Genetics and Genomics<break/>Department of Genetics and Genomic Sciences<break/>The Mindich Child Health and Development Institute<break/>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>mafalda.barbosa@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chopra</surname><given-names>Maya</given-names></name><degrees>MBBS, FRACP</degrees><aff>Rosamund Stone Zander Translational Neuroscience Center<break/>Boston Children's Hospital<break/>Boston, Massachusetts</aff><email>maya.chopra@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Turro</surname><given-names>Ernest</given-names></name><degrees>PhD</degrees><aff>Department of Genetics and Genomic Sciences<break/>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>ernest.turro@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valenzuela Palafoll</surname><given-names>Irene</given-names></name><degrees>MSc, MD</degrees><aff>Clinical and Molecular Genetics Area<break/>Vall d'Hebron Hospital; Medicine Genetics Group<break/>Vall d'Hebron Research Institute (VHIR)<break/>Barcelona, Spain</aff><email>irene.valenzuela@vallhebron.cat</email></contrib></contrib-group><?date-created 20260526?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rnu4-2-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4-2-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4-2-ndd\" document-type=\"chapter\" object-id=\"rnu4-2-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rnu4atac-dis\"><title>RNU4atac-opathy</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">RNU4ATAC</italic> Spectrum Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duker</surname><given-names>Angela</given-names></name><degrees>MS</degrees><email>aduker@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Velasco</surname><given-names>Danita</given-names></name><degrees>MD</degrees><email>dvelasco@unmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Robertson</surname><given-names>Nic</given-names></name><degrees>MRCPCH, PhD</degrees><email>nic.robertson@ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jackson</surname><given-names>Andrew</given-names></name><degrees>MRCP, PhD</degrees><email>andrew.jackson@ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>DeFelice</surname><given-names>Magee</given-names></name><degrees>MD</degrees><email>magee.defelice@nemours.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bober</surname><given-names>Michael B</given-names></name><degrees>MD, PhD</degrees><email>mbober@nemours.org</email></contrib></contrib-group><?date-created 20230216?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rnu4atac-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rnu4atac-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rnu4atac-dis\" document-type=\"chapter\" object-id=\"rnu4atac-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rob\"><title><italic toggle=\"yes\">ROR2</italic>-Related Robinow Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Fetal Face Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bacino</surname><given-names>Carlos A</given-names></name><degrees>MD</degrees><aff>Department of Molecular and Human Genetics\nBaylor College of Medicine\nHouston, Texas</aff><email>cbacino@bcm.edu</email></contrib></contrib-group><?date-created 20050728?><?date-updated 20180726?><?date-revised 20190912?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rob.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rob.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rob\" document-type=\"chapter\" object-id=\"rob.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rts\"><title>Rothmund-Thomson Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Lisa L</given-names></name><degrees>MD</degrees><aff>Associate Professor, Division of Hematology/Oncology\nDepartment of Pediatrics\nTexas Children's Cancer Center\nTexas Children's Hospital\nBaylor College of Medicine\nHouston, Texas</aff><email>llwang@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Plon</surname><given-names>Sharon E</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Professor, Departments of Pediatrics and Molecular and Human Genetics\nTexas Children's Hospital\nBaylor College of Medicine\nHouston, Texas</aff><email>splon@bcm.edu</email></contrib></contrib-group><?date-created 19991006?><?date-updated 20190103?><?date-revised 20200604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rts.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rts.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rts\" document-type=\"chapter\" object-id=\"rts.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rotor\"><title>Rotor Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Rotor-Type Hyperbilirubinemia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jirsa</surname><given-names>Milan</given-names></name><degrees>MD, PhD</degrees><aff>Institute for Clinical and Experimental Medicine<break/>Prague, Czech Republic</aff><email>miji@ikem.cz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Knisely</surname><given-names>AS</given-names></name><degrees>MD</degrees><aff>ZLP - Zentrum f&#x000fc;r Leber- und Pankreaspathologie<break/>St P&#x000f6;lten, Austria</aff><email>asknisely@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schinkel</surname><given-names>Alfred</given-names></name><degrees>PhD</degrees><aff>Netherlands Cancer Institute<break/>Amsterdam, the Netherlands</aff><email>a.schinkel@nki.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kmoch</surname><given-names>Stanislav</given-names></name><degrees>PhD</degrees><aff>Department of Pediatrics and Inherited Metabolic Disorders<break/>Charles University<break/>Prague, Czech Republic</aff><email>skmoch@lf1.cuni.cz</email></contrib></contrib-group><?date-created 20121213?><?date-updated 20250227?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rotor.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rotor.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rotor\" document-type=\"chapter\" object-id=\"rotor.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cls\"><title><italic toggle=\"yes\">RPS6KA3</italic>-Related Intellectual Disability</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rogers</surname><given-names>R Curtis</given-names></name><degrees>MD</degrees><aff>Senior Clinical Geneticist<break/>Greenwood Genetic Center<break/>Greenville, South Carolina</aff><email>crogers@ggc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abidi</surname><given-names>Fatima E</given-names></name><degrees>PhD, MS, FACMG</degrees><aff>Associate Director, Molecular Diagnostic Laboratory<break/>Greenwood Genetic Center<break/>Greenwood, South Carolina</aff><email>fatimaabidi@ggc.org</email></contrib></contrib-group><?date-created 20020716?><?date-updated 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cls.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cls.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cls\" document-type=\"chapter\" object-id=\"cls.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl\"><title><italic toggle=\"yes\">RRM2B</italic> Mitochondrial DNA Maintenance Defects</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lim</surname><given-names>Albert Z</given-names></name><degrees>MBBS (Hons), MRCPCH</degrees><email>albert.lim@ncl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McFarland</surname><given-names>Robert</given-names></name><degrees>MA, MBBS, PhD</degrees><email>robert.mcfarland@ncl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Robert W</given-names></name><degrees>PhD, FRCPath</degrees><email>robert.taylor@ncl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gorman</surname><given-names>Gr&#x000e1;inne S</given-names></name><degrees>MB BCh, BAO (NUI), LRCP&#x00026;SI (Hons), PhD</degrees><email>grainne.gorman@ncl.ac.uk</email></contrib></contrib-group><?date-created 20140417?><?date-updated 20210624?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rrm2b-mtddepl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rrm2b-mtddepl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rrm2b-mtddepl\" document-type=\"chapter\" object-id=\"rrm2b-mtddepl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rsts\"><title>Rubinstein-Taybi Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Broad Thumb-Hallux Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevens</surname><given-names>Cathy A</given-names></name><degrees>MD</degrees><aff>Director, Medical Genetics<break/>Professor, Pediatrics<break/>University of Tennessee College of Medicine<break/>Chattanooga, Tennessee</aff><email>cathy.stevens@erlanger.org</email></contrib></contrib-group><?date-created 20020830?><?date-updated 20231109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rsts.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rsts.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rsts\" document-type=\"chapter\" object-id=\"rsts.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_runx1\"><title><italic toggle=\"yes\">RUNX1</italic> Familial Platelet Disorder with Associated Myeloid Malignancies</title><subtitle content-type=\"alt-title\">Synonyms: Familial Platelet Disorder / Acute Myeloid Leukemia (FPD/AML), <italic toggle=\"yes\">RUNX1</italic> Familial Platelet Disorder (FPD)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deuitch</surname><given-names>Natalie</given-names></name><degrees>MS, CGC</degrees><email>natalie.deuitch@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Broadbridge</surname><given-names>Elizabeth</given-names></name><degrees>BS</degrees><email>liesl.broadbridge@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cunningham</surname><given-names>Lea</given-names></name><degrees>MD</degrees><email>lea.cunningham@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Liu</surname><given-names>Paul</given-names></name><degrees>MD, PhD</degrees><email>pliu@mail.nih.gov</email></contrib></contrib-group><?date-created 20210304?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_runx1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_runx1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"runx1\" document-type=\"chapter\" object-id=\"runx1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-S?><toc-entry id=\"toc_scs\"><title>Saethre-Chotzen Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Acrocephalosyndactyly Type III</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gallagher</surname><given-names>Emily R</given-names></name><degrees>MD, MPH</degrees><aff>Children's Craniofacial Center\nSeattle Children's Hospital;\nDepartment of Pediatrics\nUniversity of Washington<break/>Seattle, Washington</aff><email>egalla@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ratisoontorn</surname><given-names>Chootima</given-names></name><degrees>DDS, PhD</degrees><aff>Department of Operative Dentistry\nChulalongkorn University<break/>Bangkok, Thailand</aff></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cunningham</surname><given-names>Michael L</given-names></name><degrees>MD, PhD</degrees><aff>Medical Director, Children's Craniofacial Center\nSeattle Children's Hospital;\nDepartments of Pediatrics, Biological Structure, Pediatric Dentistry, and Oral Biology\nUniversity of Washington Schools of Medicine and Dentistry<break/>Seattle, Washington</aff><email>mcunning@uw.edu</email></contrib></contrib-group><?date-created 20030516?><?date-updated 20190124?><?date-revised 20120614?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_scs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scs\" document-type=\"chapter\" object-id=\"scs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_salih-myo\"><title>Salih Myopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hackman</surname><given-names>Peter</given-names></name><degrees>PhD</degrees><email>peter.hackman@helsinki.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarese</surname><given-names>Marco</given-names></name><degrees>PhD</degrees><email>marco.savarese@helsinki.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Di Feo</surname><given-names>Maria Francesca</given-names></name><degrees>MD</degrees><email>mariafrancesca.difeo@helsinki.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Udd</surname><given-names>Bjarne</given-names></name><degrees>MD, PhD</degrees><email>bjarne.udd@pshp.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salih</surname><given-names>Mustafa A</given-names></name><degrees>MB BS, MPCH, MD, Dr Med Sci, FRCPCH, FAAN</degrees><email>mustafa_salih05@yahoo.com</email></contrib></contrib-group><?date-created 20120112?><?date-updated 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_salih-myo.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_salih-myo.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"salih-myo\" document-type=\"chapter\" object-id=\"salih-myo.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tbs\"><title><italic toggle=\"yes\">SALL1</italic>-Related Townes-Brocks Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Graziano</surname><given-names>Claudio</given-names></name><degrees>MD</degrees><aff>U.O. Genetica Medica<break/>Azienda USL della Romagna<break/>Ravenna, Italy</aff><email>claudio.graziano2@auslromagna.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Olivucci</surname><given-names>Giulia</given-names></name><degrees>MD</degrees><aff>IRCCS Azienda Ospedaliero-Universitaria di Bologna<break/>Bologna, Italy</aff><email>giulia.olivucci2@unibo.it</email></contrib></contrib-group><?date-created 20070124?><?date-updated 20240808?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbs\" document-type=\"chapter\" object-id=\"tbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_drrs\"><title><italic toggle=\"yes\">SALL4</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kohlhase</surname><given-names>J&#x000fc;rgen</given-names></name><degrees>MD</degrees><aff>SYNLAB Center for Human Genetics\nFreiburg, Germany</aff><email>juergen.kohlhase@synlab.com</email></contrib></contrib-group><?date-created 20040816?><?date-updated 20220317?><?date-revised 20080312?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_drrs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_drrs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"drrs\" document-type=\"chapter\" object-id=\"drrs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_samd9l-ap\"><title><italic toggle=\"yes\">SAMD9L</italic> Ataxia-Pancytopenia Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">SAMD9L</italic>-ATXPC Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raskind</surname><given-names>Wendy H</given-names></name><degrees>MD, PhD</degrees><email>wendyrun@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Dong-Hui</given-names></name><degrees>MD, PhD</degrees><email>cdhui@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bird</surname><given-names>Thomas</given-names></name><degrees>MD</degrees><email>tomnroz@uw.edu</email></contrib></contrib-group><?date-created 20170601?><?date-updated 20210204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_samd9l-ap.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_samd9l-ap.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"samd9l-ap\" document-type=\"chapter\" object-id=\"samd9l-ap.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sandhoff\"><title>Sandhoff Disease</title><subtitle content-type=\"alt-title\">Synonym: Type II GM2 Gangliosidosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xiao</surname><given-names>Changrui</given-names></name><degrees>MD</degrees><email>changrui.xiao@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tifft</surname><given-names>Cynthia</given-names></name><degrees>MD, PhD</degrees><email>cynthiat@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toro</surname><given-names>Camilo</given-names></name><degrees>MD</degrees><email>toroc@mail.nih.gov</email></contrib></contrib-group><?date-created 20220414?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sandhoff.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sandhoff.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sandhoff\" document-type=\"chapter\" object-id=\"sandhoff.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_satb2-dis\"><title><italic toggle=\"yes\">SATB2-</italic>Associated Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: 2q32 Deletion Syndrome, 2q33.1 Microdeletion Syndrome, Glass Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zarate</surname><given-names>Yuri A</given-names></name><degrees>MD</degrees><email>yuri.zarate@uky.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bosanko</surname><given-names>Katherine</given-names></name><degrees>MS</degrees><email>kbbosanko@uams.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fish</surname><given-names>Jennifer</given-names></name><degrees>PhD</degrees><email>jennifer_fish@uml.edu</email></contrib></contrib-group><?date-created 20171012?><?date-updated 20240620?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_satb2-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_satb2-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"satb2-dis\" document-type=\"chapter\" object-id=\"satb2-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_saul-wilson\"><title>Saul-Wilson Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Microcephalic Osteodysplastic Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ferreira</surname><given-names>Carlos</given-names></name><degrees>MD</degrees><aff>Medical Genomics and Metabolic Genetics Branch<break/>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>carlos.ferreira@nih.gov</email></contrib></contrib-group><?date-created 20200220?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_saul-wilson.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_saul-wilson.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"saul-wilson\" document-type=\"chapter\" object-id=\"saul-wilson.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_amrf\"><title><italic toggle=\"yes\">SCARB2</italic>-Related Action Myoclonus &#x02013; Renal Failure Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xiao</surname><given-names>Changrui</given-names></name><degrees>MD</degrees><email>changrx@hs.uci.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahn</surname><given-names>Haejun</given-names></name><degrees>MD</degrees><email>hcahn@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kibrom</surname><given-names>Sara</given-names></name><degrees>MD</degrees><email>skibrom@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toro</surname><given-names>Camilo</given-names></name><degrees>MD</degrees><email>toroc@mail.nih.gov</email></contrib></contrib-group><?date-created 20151217?><?date-updated 20230209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_amrf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amrf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amrf\" document-type=\"chapter\" object-id=\"amrf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_schaaf-yang\"><title>Schaaf-Yang Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Chitayat-Hall Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaaf</surname><given-names>Christian P</given-names></name><degrees>MD, PhD</degrees><email>christian.schaaf@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marbach</surname><given-names>Felix</given-names></name><degrees>MD</degrees><email>felix.marbach@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20210211?><?date-revised 20211104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_schaaf-yang.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schaaf-yang.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schaaf-yang\" document-type=\"chapter\" object-id=\"schaaf-yang.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_siod\"><title>Schimke Immunoosseous Dysplasia</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">SMARCAL1</italic>-Related Immuno-osseous Dysplasia (Schimke Type)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lippner</surname><given-names>Elizabeth</given-names></name><degrees>MD</degrees><email>elippner@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>L&#x000fc;cke</surname><given-names>Thomas</given-names></name><degrees>MD, PhD</degrees><email>luecke.thomas@ruhr-uni-bochum.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salgado</surname><given-names>Carlos</given-names></name><degrees>MD</degrees><email>salgado1@stanford.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boerkoel</surname><given-names>Cornelius</given-names></name><degrees>MD, PhD</degrees><email>cornelius.boerkoel@ubc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lewis</surname><given-names>David B</given-names></name><degrees>MD</degrees><email>dblewis@stanford.edu</email></contrib></contrib-group><?date-created 20021001?><?date-updated 20220414?><?date-revised 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_siod.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_siod.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"siod\" document-type=\"chapter\" object-id=\"siod.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_schinzel-giedion\"><title>Schinzel-Giedion Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duis</surname><given-names>Jessica</given-names></name><degrees>MD, MS</degrees><aff>Children's Hospital Colorado;<break/>University of Colorado Anschutz Medical Campus<break/>Aurora, Colorado</aff><email>jduis@sequencemd.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Bon</surname><given-names>Bregje WM</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Genetics<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>bregje.vanbon@radboudumc.nl</email></contrib></contrib-group><?date-created 20240307?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_schinzel-giedion.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schinzel-giedion.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schinzel-giedion\" document-type=\"chapter\" object-id=\"schinzel-giedion.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_schmid-mcd\"><title>Schmid Metaphyseal Chondrodysplasia</title><subtitle content-type=\"alt-title\">Synonyms: Metaphyseal Chondrodysplasia Type Schmid (MCDS); Metaphyseal Dysplasia Schmid (MCS), <italic toggle=\"yes\">COL10A1-</italic>Related</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Richmond</surname><given-names>Christopher Mark</given-names></name><degrees>BBiomedSc, MBBS, FRACP</degrees><email>chris.richmond@health.qld.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20191021?><?date-updated 20240509?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_schmid-mcd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_schmid-mcd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"schmid-mcd\" document-type=\"chapter\" object-id=\"schmid-mcd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_gefs\"><title><italic toggle=\"yes\">SCN1A</italic> Seizure Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miller</surname><given-names>Ian O</given-names></name><degrees>MD</degrees><aff>Medical Director, Comprehensive Epilepsy Program<break/>Nicklaus Children's Hospital<break/>Miami, Florida</aff><email>ian.miller@mchdocs.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sotero de Menezes</surname><given-names>Marcio A</given-names></name><degrees>MD</degrees><aff>Director, Genetic Epilepsy Clinic and TSC Clinic<break/>Pediatric Neuroscience Center<break/>Swedish Neuroscience Institute<break/>Seattle, Washington</aff><email>marcio.soterodemenezes@swedish.org</email></contrib></contrib-group><?date-created 20071129?><?date-updated 20190418?><?date-revised 20220217?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_gefs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.GeneReview_Scope\"><title>GeneReview Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_gefs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"gefs\" document-type=\"chapter\" object-id=\"gefs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_scn3a-ndd\"><title><italic toggle=\"yes\">SCN3A-</italic>Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Helbig</surname><given-names>Katherine L</given-names></name><degrees>MS, CGC</degrees><aff>The Epilepsy Neurogenetics Initiative<break/>Division of Neurology<break/>Department of Pediatrics<break/>The Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>helbigk@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldberg</surname><given-names>Ethan M</given-names></name><degrees>MD, PhD</degrees><aff>The Epilepsy Neurogenetics Initiative<break/>Division of Neurology<break/>Department of Pediatrics<break/>The Children's Hospital of Philadelphia;<break/>Departments of Neurology and Neuroscience<break/>The University of Pennsylvania Perelman School of Medicine<break/>Philadelphia, Pennsylvania</aff><email>goldberge@email.chop.edu</email></contrib></contrib-group><?date-created 20210603?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_scn3a-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn3a-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn3a-ndd\" document-type=\"chapter\" object-id=\"scn3a-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_scn8a-ee\"><title><italic toggle=\"yes\">SCN8A</italic>-Related Epilepsy and/or Neurodevelopmental Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hammer</surname><given-names>Michael F</given-names></name><degrees>PhD</degrees><aff>Professor of Neurology<break/>BIO5 Institute<break/>University of Arizona<break/>Tucson, Arizona</aff><email>mfh@email.arizona.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Xia</surname><given-names>Maya</given-names></name><degrees>BA</degrees><aff>COMBINEDBrain<break/>Brentwood, Tennessee</aff><email>maya@combinedbrain.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schreiber</surname><given-names>John M</given-names></name><degrees>MD</degrees><aff>Children's National Hospital<break/>Washington, DC</aff><email>jschreib@childrensnational.org</email></contrib></contrib-group><?date-created 20160825?><?date-updated 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_scn8a-ee.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scn8a-ee.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scn8a-ee\" document-type=\"chapter\" object-id=\"scn8a-ee.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_etha\"><title><italic toggle=\"yes\">SCN9A</italic> Neuropathic Pain Syndromes</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hisama</surname><given-names>Fuki M</given-names></name><degrees>MD</degrees><aff>Division of Genetics\nDepartment of Medicine\nUniversity of Washington\nSeattle, Washington</aff><email>fmh2@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dib-Hajj</surname><given-names>Sulayman D</given-names></name><degrees>PhD</degrees><aff>Senior Research Scientist, Center for Neuroscience and Regeneration Research\nDepartment of Neurology\nYale University School of Medicine\nNew Haven, Connecticut</aff><email>sulayman.dib-hajj@yale.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waxman</surname><given-names>Stephen G</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Center for Neuroscience and Regeneration Research\nDepartment of Neurology\nYale University School of Medicine\nNew Haven, Connecticut</aff><email>stephen.waxman@yale.edu</email></contrib></contrib-group><?date-created 20060506?><?date-updated 20200123?><?date-revised 20080925?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_etha.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_etha.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"etha\" document-type=\"chapter\" object-id=\"etha.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spr-def\"><title>Sepiapterin Reductase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Dopa-Responsive Hypersomnia, DYT-SPR, SPR Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Friedman</surname><given-names>Jennifer</given-names></name><degrees>MD</degrees><aff>Clinical Professor, Neurosciences and Pediatrics<break/>Rady Children&#x02019;s Institute for Genomic Medicine<break/>University of California San Diego&#x000a0;/ Rady Children&#x02019;s Hospital San Diego<break/>San Diego, California</aff><email>jrfriedman@ucsd.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Galosi</surname><given-names>Serena</given-names></name><degrees>MD, PhD</degrees><aff>Department of Human Neuroscience<break/>Sapienza University<break/>Rome, Italy</aff><email>serena.galosi@uniroma1.it</email></contrib></contrib-group><?date-created 20150701?><?date-updated 20250918?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spr-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spr-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spr-def\" document-type=\"chapter\" object-id=\"spr-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_megdel\"><title>SERAC1 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wortmann</surname><given-names>Saskia B</given-names></name><degrees>MD, PhD</degrees><aff>Expertise Centre for Inborn Metabolic Disease<break/>University Children's Hospital<break/>Paracelsus Private Medical University<break/>Salzburg, Austria</aff><email>s.wortmann@salk.at</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Brouwer</surname><given-names>Arjan PM</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Radboud University Nijmegen Medical Center<break/>Nijmegen, the Netherlands</aff><email>arjan.debrouwer@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wevers</surname><given-names>Ron A</given-names></name><degrees>PhD</degrees><aff>Translational Metabolic Laboratory<break/>Department of Human Genetics<break/>Radboud University Nijmegen Medical Center<break/>Nijmegen, the Netherlands</aff><email>ron.wevers@radboudumc.nl</email></contrib></contrib-group><?date-created 20140417?><?date-updated 20260521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_megdel.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_megdel.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"megdel\" document-type=\"chapter\" object-id=\"megdel.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_serine-def\"><title>Serine Deficiency Disorders</title><subtitle content-type=\"alt-title\">Synonyms: Serine Biosynthesis Disorders, Serine Synthesis Disorders</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Crabben</surname><given-names>Saskia N</given-names></name><degrees>MD, PhD</degrees><email>s.n.vandercrabben@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Koning</surname><given-names>Tom J</given-names></name><degrees>MD, PhD</degrees><email>tom.j_de_koning@med.lu.se</email></contrib></contrib-group><?date-created 20230622?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_serine-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_serine-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"serine-def\" document-type=\"chapter\" object-id=\"serine-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_setbp1-hd\"><title><italic toggle=\"yes\">SETBP1</italic> Haploinsufficiency Disorder</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">SETBP1</italic> Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morgan</surname><given-names>Angela</given-names></name><degrees>PhD</degrees><aff>Murdoch Children&#x02019;s Research Institute<break/>University of Melbourne<break/>Royal Children&#x02019;s Hospital<break/>Melbourne, Australia</aff><email>angela.morgan@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Srivastava</surname><given-names>Siddharth</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Boston Children&#x02019;s Hospital<break/>Boston, Massachusetts</aff><email>siddharth.srivastava@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duis</surname><given-names>Jessica</given-names></name><degrees>MD, MS</degrees><aff>Children's Hospital Colorado<break/>University of Colorado Anschutz Medical Campus<break/>Aurora, Colorado</aff><email>jessica.duis@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Bon</surname><given-names>Bregje</given-names></name><degrees>MD, PhD</degrees><aff>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>bregje.vanbon@radboudumc.nl</email></contrib></contrib-group><?date-created 20211118?><?date-revised 20240509?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_setbp1-hd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setbp1-hd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setbp1-hd\" document-type=\"chapter\" object-id=\"setbp1-hd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_setd1b-ndd\"><title><italic toggle=\"yes\">SETD1B</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roston</surname><given-names>Alexandra</given-names></name><degrees>MD</degrees><aff>Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, British Columbia</aff><email>alexandra.roston@phsa.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gibson</surname><given-names>William</given-names></name><degrees>MD, PhD</degrees><aff>UBC Senior Clinician Scientist, Department of Medical Genetics<break/>BC Children's Hospital Research Institute<break/>Vancouver, British Columbia</aff><email>wtgibson@bcchr.ca</email></contrib></contrib-group><?date-created 20220929?><?date-revised 20250227?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_setd1b-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd1b-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd1b-ndd\" document-type=\"chapter\" object-id=\"setd1b-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_setd2-ndd\"><title><italic toggle=\"yes\">SETD2</italic> Neurodevelopmental Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pappas</surname><given-names>John</given-names></name><degrees>MD, MS</degrees><aff>Associate Professor, Grossman School of Medicine<break/>New York University<break/>New York, New York</aff><email>john.pappas@nyulangone.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rabin</surname><given-names>Rachel</given-names></name><degrees>MS</degrees><aff>Grossman School of Medicine<break/>New York University<break/>New York, New York</aff><email>rachel.rabin@nyulangone.org</email></contrib></contrib-group><?date-created 20211230?><?date-revised 20220922?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_setd2-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_setd2-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"setd2-ndd\" document-type=\"chapter\" object-id=\"setd2-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_myo-dystonia\"><title><italic toggle=\"yes\">SGCE</italic> Myoclonus-Dystonia</title><subtitle content-type=\"alt-title\">Synonyms: Dystonia 11 (DYT11), DYT-SGCE</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raymond</surname><given-names>Deborah</given-names></name><degrees>MS</degrees><email>draymond@mountsinai.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saunders-Pullman</surname><given-names>Rachel</given-names></name><degrees>MD, MPH</degrees><email>rachel.saunders-pullman@mountsinai.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ozelius</surname><given-names>Laurie</given-names></name><degrees>PhD</degrees><email>lozelius@partners.org</email></contrib></contrib-group><?date-created 20030521?><?date-updated 20190808?><?date-revised 20200604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_myo-dystonia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_myo-dystonia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"myo-dystonia\" document-type=\"chapter\" object-id=\"myo-dystonia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_cmt4c\"><title><italic toggle=\"yes\">SH3TC2</italic>-Related Hereditary Motor and Sensory Neuropathy</title><subtitle content-type=\"alt-title\">Synonyms: Charcot-Marie-Tooth Disease Type 4C, CMT4C, <italic toggle=\"yes\">SH3TC2</italic>-HMSN, <italic toggle=\"yes\">SH3TC2</italic>-Related Charcot-Marie-Tooth Neuropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Azzedine</surname><given-names>Hamid</given-names></name><degrees>PhD</degrees><aff>Institute of Pathology and Neuropathology\nAcademic Medical Center\nAmsterdam, the Netherlands</aff><email>azzedine.hamid@yahoo.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salih</surname><given-names>Mustafa A</given-names></name><degrees>MD, Dr Med Sci, FRCPCH, FAAN</degrees><aff>Division of Pediatric Neurology\nCollege of Medicine\nKing Saud University\nRiyadh, Saudi Arabia</aff></contrib></contrib-group><?date-created 20080331?><?date-updated 20210311?><?date-revised 20100706?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_cmt4c.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_cmt4c.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"cmt4c\" document-type=\"chapter\" object-id=\"cmt4c.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_shashi-pena\"><title>Shashi-Pena Syndrome</title><subtitle content-type=\"alt-title\">Synonym: SHAPNS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Porter</surname><given-names>Julie M</given-names></name><degrees>MD, PhD</degrees><email>julie.lander@hsc.utah.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pena</surname><given-names>Loren DM</given-names></name><degrees>MD, PhD</degrees><email>loren.pena@alumni.duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Spillmann</surname><given-names>Rebecca C</given-names></name><degrees>MS, CGC</degrees><email>rebecca.crimian@duke.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johnson</surname><given-names>Amanda</given-names></name><email>amanda@arrefoundation.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shashi</surname><given-names>Vandana</given-names></name><degrees>MD</degrees><email>vandana.shashi@duke.edu</email></contrib></contrib-group><?date-created 20241107?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_shashi-pena.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_shashi-pena.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"shashi-pena\" document-type=\"chapter\" object-id=\"shashi-pena.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_scad\"><title>Short-Chain Acyl-CoA Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: SCADD, SCAD Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolfe</surname><given-names>Lynne</given-names></name><degrees>MS, CRNP, BC</degrees><aff>National Human Genome Research Institute<break/>National Institutes of Health<break/>Bethesda, Maryland</aff><email>lynne.wolfe@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jethva</surname><given-names>Reena</given-names></name><degrees>MD</degrees><aff>Hackensack University Medical Center<break/>Hackensack, New Jersey</aff><email>reena.jethva@hmhn.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oglesbee</surname><given-names>Devin</given-names></name><degrees>PhD</degrees><aff>Mayo Clinic<break/>Rochester, Minnesota</aff><email>oglesbee.devin@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vockley</surname><given-names>Jerry</given-names></name><degrees>MD, PhD</degrees><aff>University of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>gerard.vockley@chp.edu</email></contrib></contrib-group><?date-created 20110922?><?date-updated 20250911?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_scad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scad\" document-type=\"chapter\" object-id=\"scad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_lwd\"><title>SHOX Deficiency Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Binder</surname><given-names>Gerhard</given-names></name><degrees>MD</degrees><aff>Pediatric Endocrinology<break/>University Children's Hospital<break/>T&#x000fc;bingen, Germany</aff><email>gerhard.binder@med.uni-tuebingen.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rappold</surname><given-names>Gudrun A</given-names></name><degrees>PhD</degrees><aff>Molecular Genetics<break/>University of Heidelberg<break/>Heidelberg, Germany</aff><email>gudrun.rappold@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20051212?><?date-updated 20180628?><?date-revised 20240523?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_lwd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_lwd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"lwd\" document-type=\"chapter\" object-id=\"lwd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sgs\"><title>Shprintzen-Goldberg Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Greally</surname><given-names>Marie T</given-names></name><degrees>MD, MSc, FACMG</degrees><aff>Consultant Clinical Geneticist, Department of Clinical Genetics<break/>Our Lady's Children's Hospital, Crumlin<break/>Dublin, Ireland</aff><email>marie.greally@yahoo.com</email></contrib></contrib-group><?date-created 20060113?><?date-updated 20200409?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sgs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgs\" document-type=\"chapter\" object-id=\"sgs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sds\"><title>Shwachman-Diamond Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Shwachman-Bodian-Diamond Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nelson</surname><given-names>Adam</given-names></name><degrees>MBBS</degrees><aff>Director, Bone Marrow Transplant and Cellular Therapy<break/>Kids Cancer Centre<break/>Sydney Children's Hospital<break/>Sydney, Australia</aff><email>adam.nelson@health.nsw.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myers</surname><given-names>Kasiani</given-names></name><degrees>MD</degrees><aff>Associate Professor of Pediatrics, Division of Blood and Marrow Transplantation and Immune Deficiency<break/>The Cancer and Blood Diseases Institute<break/>Cincinnati Children's Hospital Medical Center<break/>Cincinnati, Ohio</aff><email>kasiani.myers@cchmc.org</email></contrib></contrib-group><?date-created 20080717?><?date-updated 20240919?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sds\" document-type=\"chapter\" object-id=\"sds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sickle\"><title>Sickle Cell Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bender</surname><given-names>MA</given-names></name><degrees>MD, PhD</degrees><email>mbender@fredhutch.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Carlberg</surname><given-names>Katie</given-names></name><degrees>MD</degrees><email>katie.carlberg@seattlechildrens.org</email></contrib></contrib-group><?date-created 20030915?><?date-updated 20221117?><?date-revised 20250213?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sickle.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sickle.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sickle\" document-type=\"chapter\" object-id=\"sickle.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rss\"><title>Silver-Russell Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Russell-Silver Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saal</surname><given-names>Howard M</given-names></name><degrees>MD</degrees><aff>Director of Clinical Genetics, Division of Human Genetics<break/>Cincinnati Children's Hospital Medical Center;<break/>Professor of Pediatrics<break/>University of Cincinnati College of Medicine<break/>Cincinnati, Ohio</aff><email>saalhm@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harbison</surname><given-names>Madeleine D</given-names></name><degrees>MD</degrees><aff>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>madeleine.harbison@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Netchine</surname><given-names>Irene</given-names></name><degrees>MD, PhD</degrees><aff>Sorbonne Universit&#x000e9;, INSERM, UMR_S 938;<break/>Centre de Recherche Saint Antoine APHP, H&#x000f4;pital Armand Trousseau;<break/>Explorations Fonctionnelles Endocriniennes<break/>Paris, France</aff><email>irene.netchine@aphp.fr</email></contrib></contrib-group><?date-created 20021102?><?date-updated 20240509?><?date-revised 20250109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rss\" document-type=\"chapter\" object-id=\"rss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sgbs\"><title>Simpson-Golabi-Behmel Syndrome Type 1</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nisbet</surname><given-names>Alex F</given-names></name><degrees>BS</degrees><email>nisbeta@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hathaway</surname><given-names>Evan R</given-names></name><degrees>MS, LCGC</degrees><email>hathawaye@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalish</surname><given-names>Jennifer M</given-names></name><degrees>MD, PhD</degrees><email>kalishj@chop.edu</email></contrib></contrib-group><?date-created 20061219?><?date-updated 20231207?><?date-revised 20241114?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sgbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgbs\" document-type=\"chapter\" object-id=\"sgbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kss\"><title>Single Large-Scale Mitochondrial DNA Deletion Syndromes</title><subtitle content-type=\"alt-title\">Synonyms: mtDNA Deletion Syndromes, SLSMDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldstein</surname><given-names>Amy</given-names></name><degrees>MD</degrees><email>goldsteina@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Falk</surname><given-names>Marni J</given-names></name><degrees>MD</degrees><email>falkm@chop.edu</email></contrib></contrib-group><?date-created 20031217?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kss\" document-type=\"chapter\" object-id=\"kss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_stsl\"><title>Sitosterolemia</title><subtitle content-type=\"alt-title\">Synonyms: Beta-Sitosterolemia, Phytosterol&#x000e6;mia, Phytosterolemia, Sitosterol&#x000e6;mia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Myrie</surname><given-names>Semone B</given-names></name><degrees>PhD</degrees><email>myrie@cc.umanitoba.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steiner</surname><given-names>Robert D</given-names></name><degrees>MD</degrees><email>rdsteiner111@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mymin</surname><given-names>David</given-names></name><degrees>MBBCh, FRCP</degrees><email>dmymin@cc.umanitoba.ca</email></contrib></contrib-group><?date-created 20130404?><?date-updated 20200716?><?date-revised 20180517?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_stsl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stsl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stsl\" document-type=\"chapter\" object-id=\"stsl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc12a5-e\"><title><italic toggle=\"yes\">SLC12A5</italic>-Related Epilepsy of Infancy with Migrating Focal Seizures</title><subtitle content-type=\"alt-title\">Synonyms: Early-Infantile Epileptic Encephalopathy 34 (EIEE34), <italic toggle=\"yes\">SLC12A5</italic>-EIMFS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McTague</surname><given-names>Amy</given-names></name><degrees>MBChB</degrees><email>a.mctague@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib></contrib-group><?date-created 20190214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc12a5-e.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc12a5-e.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc12a5-e\" document-type=\"chapter\" object-id=\"slc12a5-e.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc19a1-ft-def\"><title><italic toggle=\"yes\">SLC19A1</italic>-Related Folate Transport Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goldman</surname><given-names>I David</given-names></name><degrees>MD</degrees><aff>Departments of Medicine, Oncology and Molecular Pharmacology<break/>Albert Einstein College of Medicine<break/>Bronx, New York</aff><email>i.david.goldman@einsteinmed.edu</email></contrib></contrib-group><?date-created 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc19a1-ft-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc19a1-ft-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc19a1-ft-def\" document-type=\"chapter\" object-id=\"slc19a1-ft-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_amish-mcph\"><title><italic toggle=\"yes\">SLC25A19</italic>-Related Thiamine Metabolism Dysfunction</title><subtitle content-type=\"alt-title\">Synonym: SLC25A19 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tabarki</surname><given-names>Brahim</given-names></name><degrees>MD</degrees><email>btabarki@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Thabet</surname><given-names>Farah</given-names></name><degrees>MD</degrees><email>thabetfarah@yahoo.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alfadhel</surname><given-names>Majid</given-names></name><degrees>MD, FCCMG</degrees><email>dralfadhelm@gmail.com</email></contrib></contrib-group><?date-created 20030904?><?date-updated 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_amish-mcph.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_amish-mcph.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"amish-mcph\" document-type=\"chapter\" object-id=\"amish-mcph.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc25a24-fps\"><title><italic toggle=\"yes\">SLC25A24</italic> Fontaine Progeroid Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Velasco</surname><given-names>Danita</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Clinical Geneticist and Assistant Professor, Pediatrics and Munroe-Meyer Institute for Genetics &#x00026; Rehabilitation<break/>University of Nebraska Medical Center<break/>Omaha, Nebraska</aff><email>dvelasco@unmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Olney</surname><given-names>Ann Haskins</given-names></name><degrees>MD, FACMG</degrees><aff>Clinical Geneticist and Professor, Pediatrics and Munroe-Meyer Institute for Genetics &#x00026; Rehabilitation<break/>University of Nebraska Medical Center<break/>Omaha, Nebraska</aff><email>aolney@unmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Starr</surname><given-names>Lois</given-names></name><degrees>MD, PhD, FAAP, FACMG</degrees><aff>Clinical Geneticist and Associate Professor, Pediatrics and Munroe-Meyer Institute for Genetics &#x00026; Rehabilitation<break/>University of Nebraska Medical Center<break/>Omaha, Nebraska</aff><email>lstarr@unmc.edu</email></contrib></contrib-group><?date-created 20220609?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc25a24-fps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc25a24-fps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc25a24-fps\" document-type=\"chapter\" object-id=\"slc25a24-fps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ao2\"><title><italic toggle=\"yes\">SLC26A2</italic>-Related Atelosteogenesis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics, Department of Pediatrics<break/>Lausanne University Hospital<break/>Lausanne, Switzerland</aff><email>asuperti@unil.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD, FRCPC</degrees><aff>Division of Genetic Medicine<break/>University of Lausanne<break/>Lausanne, Switzerland</aff><email>sheila.unger@chuv.ch</email></contrib></contrib-group><?date-created 20020830?><?date-updated 20200924?><?date-revised 20230316?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ao2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ao2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ao2\" document-type=\"chapter\" object-id=\"ao2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_edm\"><title><italic toggle=\"yes\">SLC26A2</italic>-Related Multiple Epiphyseal Dysplasia</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">SLC26A2</italic>-Related Recessive MED (<italic toggle=\"yes\">SLC26A2</italic>-rMED)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Unger</surname><given-names>Sheila</given-names></name><degrees>MD</degrees><aff>Associate Professor of Genetics<break/>University of Lausanne;<break/>Lausanne University Hospital<break/>Lausanne, Switzerland</aff><email>sheila.unger@chuv.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><degrees>MD</degrees><aff>Professor of Pediatrics and Genetics<break/>University of Lausanne;<break/>Lausanne University Hospital<break/>Lausanne, Switzerland</aff><email>asuperti@unil.ch</email></contrib></contrib-group><?date-created 20020829?><?date-updated 20230119?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_edm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_edm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"edm\" document-type=\"chapter\" object-id=\"edm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pendred\"><title><italic toggle=\"yes\">SLC26A4</italic>-Related Sensorineural Hearing Loss</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Richard JH</given-names></name><degrees>MD</degrees><aff>Sterba Hearing Research Professor of Otolaryngology;<break/>Director, Molecular Otolaryngology and Renal Research Laboratories<break/>Department of Otolaryngology &#x02013; Head &#x00026; Neck Surgery<break/>Carver College of Medicine<break/>University of Iowa<break/>Iowa City, Iowa</aff><email>richard-smith@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Azaiez</surname><given-names>Hela</given-names></name><degrees>MS, PhD</degrees><aff>Molecular Otolaryngology and Renal Research Laboratories<break/>Department of Otolaryngology &#x02013; Head &#x00026; Neck Surgery<break/>Carver College of Medicine<break/>University of Iowa<break/>Iowa City, Iowa</aff><email>hela-azaiez@uiowa.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Odell</surname><given-names>Amanda M</given-names></name><degrees>MS, LGC</degrees><aff>Genetic Counselor,<break/>Molecular Otolaryngology and Renal Research Laboratories<break/>Department of Otolaryngology &#x02013; Head &#x00026; Neck Surgery<break/>Carver College of Medicine<break/>University of Iowa<break/>Iowa City, Iowa</aff><email>amanda-odell@uiowa.edu</email></contrib></contrib-group><?date-created 19980928?><?date-updated 20250109?><?date-revised 20250403?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pendred.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pendred.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pendred\" document-type=\"chapter\" object-id=\"pendred.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc39a14-def\"><title>SLC39A14 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Hypermanganesemia with Dystonia 2 (HMNDYT2); <italic toggle=\"yes\">SLC39A14</italic>-Related Early-Onset Dystonia-Parkinsonism</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tuschl</surname><given-names>Karin</given-names></name><degrees>MD, PhD</degrees><email>k.tuschl@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregory</surname><given-names>Allison</given-names></name><degrees>MS, CGC</degrees><email>gregorya@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meyer</surname><given-names>Esther</given-names></name><degrees>PhD</degrees><email>esther.meyer@nbt.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Clayton</surname><given-names>Peter T</given-names></name><degrees>MD</degrees><email>peter.clayton@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hayflick</surname><given-names>Susan J</given-names></name><degrees>MD</degrees><email>hayflick@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mills</surname><given-names>Philippa B</given-names></name><degrees>PhD</degrees><email>p.mills@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib></contrib-group><?date-created 20170525?><?date-updated 20221208?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc39a14-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a14-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a14-def\" document-type=\"chapter\" object-id=\"slc39a14-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc39a8-cdg\"><title>SLC39A8-CDG</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">CDG-IIn</italic>, Congenital Disorder of Glycosylation Type IIn (CDG2N), SLC39A8 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Park</surname><given-names>Julien H</given-names></name><degrees>Dr. med.</degrees><aff>Klinik f&#x000fc;r Kinder- und Jugendmedizin &#x02013; Allgemeine P&#x000e4;diatrie<break/>Universit&#x000e4;tsklinikum M&#x000fc;nster (UKM)</aff><email>julien.park@ukmuenster.de</email></contrib></contrib-group><?date-created 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc39a8-cdg.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc39a8-cdg.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc39a8-cdg\" document-type=\"chapter\" object-id=\"slc39a8-cdg.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc6a1-ndd\"><title><italic toggle=\"yes\">SLC6A1</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">SLC6A1</italic>-Related Disorder, SLC6A1 Deficiency Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goodspeed</surname><given-names>Kimberly</given-names></name><degrees>MD, MSCS</degrees><email>kimberly.goodspeed@utsouthwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Demarest</surname><given-names>Scott</given-names></name><degrees>MD, MSCS</degrees><email>scott.demarest@childrenscolorado.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johannesen</surname><given-names>Katrine</given-names></name><degrees>MD, PhD</degrees><email>katrine.johannesen@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kang</surname><given-names>Jingqiong</given-names></name><degrees>PhD</degrees><email>jingqiong.kang@vumc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lal</surname><given-names>Dennis</given-names></name><degrees>PhD</degrees><email>lald@ccf.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Angione</surname><given-names>Katie</given-names></name><degrees>MS</degrees><email>kaitlin.angione@childrenscolorado.org</email></contrib></contrib-group><?date-created 20230209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc6a1-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a1-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a1-ndd\" document-type=\"chapter\" object-id=\"slc6a1-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slc6a3-dtds\"><title><italic toggle=\"yes\">SLC6A3</italic>-Related Dopamine Transporter Deficiency Syndrome</title><subtitle content-type=\"alt-title\">Synonym: DAT Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Spaull</surname><given-names>Robert VV</given-names></name><degrees>MA, MBBS</degrees><email>r.spaull@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kurian</surname><given-names>Manju A</given-names></name><degrees>MA, MBBChir, PhD</degrees><email>manju.kurian@ucl.ac.uk</email></contrib></contrib-group><?date-created 20170727?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slc6a3-dtds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slc6a3-dtds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slc6a3-dtds\" document-type=\"chapter\" object-id=\"slc6a3-dtds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_nbs\"><title><italic toggle=\"yes\">SMARCA2-</italic>Related Nicolaides-Baraitser Syndrome</title><subtitle content-type=\"alt-title\">Synonym: NCBRS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abdul-Rahman</surname><given-names>Omar</given-names></name><degrees>MD</degrees><aff>Department of Pediatrics<break/>Weill Cornell Medicine<break/>New York, NY</aff><email>oma4009@med.cornell.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>May</surname><given-names>Francis</given-names></name><degrees>MD</degrees><aff>Memorial Sloan Kettering Cancer Center;<break/>NewYork-Presbyterian/Weill Cornell Medical Center<break/>New York, NY</aff><email>fjm4001@nyp.org</email></contrib></contrib-group><?date-created 20151015?><?date-updated 20250306?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_nbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_nbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"nbs\" document-type=\"chapter\" object-id=\"nbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_smith-kingsmore\"><title>Smith-Kingsmore Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prada</surname><given-names>Carlos E</given-names></name><degrees>MD</degrees><email>cprada@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raski</surname><given-names>Carolyn R</given-names></name><degrees>MS</degrees><email>craski@luriechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mirzaa</surname><given-names>Ghayda</given-names></name><degrees>MD</degrees><email>ghayda.mirzaa@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Besterman</surname><given-names>Aaron</given-names></name><degrees>MD</degrees><email>abesterman@ucsd.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Krueger</surname><given-names>Darcy A</given-names></name><degrees>MD, PhD</degrees><email>krueger_darcy@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Liu</surname><given-names>Andrew C</given-names></name><degrees>PhD</degrees><email>andrew.liu@ufl.edu</email></contrib></contrib-group><?date-created 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_smith-kingsmore.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smith-kingsmore.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smith-kingsmore\" document-type=\"chapter\" object-id=\"smith-kingsmore.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_slo\"><title>Smith-Lemli-Opitz Syndrome</title><subtitle content-type=\"alt-title\">Synonym: SLOS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nowaczyk</surname><given-names>Malgorzata JM</given-names></name><degrees>MD, MFA, FRCPC, FCCMG, FACMG</degrees><aff>Professor, Molecular Medicine &#x00026; Pathology and PediatricsPediatrician and Clinical GeneticistMcMaster UniversityHamilton, Canada</aff><email>nowaczyk@hhsc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wassif</surname><given-names>Christopher A</given-names></name><degrees>PhD</degrees><aff>Staff Scientist, Section of Molecular DysmorphologyNICHDBethesda, Maryland</aff><email>wassifc@mail.nih.gov</email></contrib></contrib-group><?date-created 19981113?><?date-updated 20200130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_slo.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_slo.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"slo\" document-type=\"chapter\" object-id=\"slo.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sms\"><title>Smith-Magenis Syndrome</title><subtitle content-type=\"alt-title\">Synonym: del(17)(p11.2)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>Ann CM</given-names></name><degrees>MA, DSc (hon), CGC</degrees><email>acmsmith@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berens</surname><given-names>John</given-names></name><degrees>MD, FAAP, FACP</degrees><email>john.berens@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boyd</surname><given-names>Kerry E</given-names></name><degrees>MD, FRCP(C)</degrees><email>kboyd@mcmaster.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brennan</surname><given-names>Christine</given-names></name><degrees>PhD, CCC-SLP</degrees><email>christine.brennan@colorado.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gropman</surname><given-names>Andrea</given-names></name><degrees>MD, FAAP, FACMG, FANA, FAAN, FCNS</degrees><email>andrea.gropman@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Haas-Givler</surname><given-names>Barbara</given-names></name><degrees>MEd, BCBA</degrees><email>bahaasgivler@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vlangos</surname><given-names>Christopher</given-names></name><degrees>PhD, FACMG</degrees><email>chris.vlangos@tempus.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Foster</surname><given-names>Rebecca</given-names></name><degrees>PhD</degrees><email>rebecca.foster@bjc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Franciskovich</surname><given-names>Rachel</given-names></name><degrees>MS, CGC</degrees><email>rwills@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Girirajan</surname><given-names>Santhosh</given-names></name><degrees>MBBS, PhD</degrees><email>sxg47@psu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raitano Lee</surname><given-names>Nancy</given-names></name><degrees>PhD</degrees><email>nrl39@drexel.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Taylor</surname><given-names>Cora</given-names></name><degrees>PhD</degrees><email>cmtaylor1@geisinger.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Turnacioglu</surname><given-names>Sinan Omer</given-names></name><degrees>MD</degrees><email>sturnaci@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Elsea</surname><given-names>Sarah H</given-names></name><degrees>PhD, FACMG</degrees><email>elsea@bcm.edu</email></contrib></contrib-group><?date-created 20011022?><?date-updated 20250529?><?date-revised 20260402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sms\" document-type=\"chapter\" object-id=\"sms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_snyder-robinson\"><title>Snyder-Robinson Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Spermine Synthase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schwartz</surname><given-names>Charles E</given-names></name><degrees>PhD</degrees><email>charles.schwartz224@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bupp</surname><given-names>Caleb</given-names></name><degrees>MD</degrees><email>caleb.bupp@corewellhealth.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kutler</surname><given-names>Mary Jo</given-names></name><degrees>DO</degrees><email>maryjo.kutler@snyder-robinson.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Peron</surname><given-names>Angela</given-names></name><degrees>MD, PhD</degrees><email>angela.peron@unifi.it</email></contrib></contrib-group><?date-created 20130627?><?date-updated 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_snyder-robinson.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Genetically_Related_Alle\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Genetically_Related_Alle\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_snyder-robinson.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"snyder-robinson\" document-type=\"chapter\" object-id=\"snyder-robinson.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sost\"><title><italic toggle=\"yes\">SOST</italic>-Related Sclerosing Bone Dysplasias</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Appelman-Dijkstra</surname><given-names>Natasha</given-names></name><degrees>MD, PhD</degrees><email>n.m.appelman-dijkstra@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Van Lierop</surname><given-names>Antoon</given-names></name><degrees>MD, PhD</degrees><email>avlierop@flevoziekenhuis.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Papapoulos</surname><given-names>Socrates</given-names></name><degrees>MD, PhD</degrees><email>s.e.papapoulos@lumc.nl</email></contrib></contrib-group><?date-created 20020604?><?date-updated 20240801?><?date-revised 20130110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sost.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sost.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sost\" document-type=\"chapter\" object-id=\"sost.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sotos\"><title>Sotos Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ocansey</surname><given-names>Sharon</given-names></name><degrees>MBBS, BSc, MSc</degrees><aff>Specialist Registrar in Clinical Genetics<break/>St George's University Hospital NHS Foundation Trust<break/>London, United Kingdom</aff><email>sharon.ocansey@stgeorges.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cole</surname><given-names>Trevor RP</given-names></name><degrees>MB ChB</degrees><aff>Consultant and Honorary Reader in Clinical Genetics<break/>Clinical Genetics Unit<break/>Birmingham Women's Hospital<break/>Birmingham, United Kingdom</aff><email>trevor.cole@bham-womens.thenhs.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rahman</surname><given-names>Nazneen</given-names></name><degrees>BM BCh, PhD</degrees><aff>Professor and Honorary Consultant in Medical Genetics<break/>Cancer Genetics Section Institute of Cancer Research<break/>London, United Kingdom</aff><email>nazneen.rahman@icr.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tatton-Brown</surname><given-names>Katrina</given-names></name><degrees>BM BCh, MD</degrees><aff>Consultant in Clinical Genetics<break/>South West Thames Regional Genetics Service;<break/>Professor in Clinical Genetics and Genomic Education<break/>St George's University of London<break/>London, United Kingdom</aff><email>ktattonbrown@nhs.net</email></contrib></contrib-group><?date-created 20041217?><?date-updated 20250605?><?date-revised 20221201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sotos.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sotos.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sotos\" document-type=\"chapter\" object-id=\"sotos.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sox2\"><title><italic toggle=\"yes\">SOX2</italic> Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Williamson</surname><given-names>Kathleen A</given-names></name><degrees>PhD</degrees><email>kathy.williamson@igmm.ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yates</surname><given-names>T Michael</given-names></name><degrees>MBChB, MRCP (Edin)</degrees><email>michael.yates@igmm.ed.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>FitzPatrick</surname><given-names>David R</given-names></name><degrees>MD, FMedSci</degrees><email>david.fitzpatrick@ed.ac.uk</email></contrib></contrib-group><?date-created 20060223?><?date-updated 20200730?><?date-revised 20080307?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sox2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sox2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sox2\" document-type=\"chapter\" object-id=\"sox2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg11\"><title>Spastic Paraplegia 11</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stevanin</surname><given-names>Giovanni</given-names></name><degrees>PhD</degrees><aff>Institut du Cerveau et de la Moelle Epini&#x000e8;re<break/>INSERM, CNRS<break/>Sorbonne University;<break/>&#x000c9;cole Pratique des Hautes &#x000c9;tudes<break/>Paris Sciences et Lettres Research University<break/>H&#x000f4;pital Piti&#x000e9;-Salp&#x000ea;tri&#x000e8;re<break/>Paris, France</aff><email>giovanni.stevanin@upmc.fr</email></contrib></contrib-group><?date-created 20080327?><?date-updated 20191219?><?date-revised 20191030?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg11.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg11.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg11\" document-type=\"chapter\" object-id=\"spg11.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg15\"><title>Spastic Paraplegia 15</title><subtitle content-type=\"alt-title\">Synonyms: Hereditary Spastic Paraplegia Type 15, HSP-<italic toggle=\"yes\">ZFYVE26</italic>, SPG15, <italic toggle=\"yes\">ZFYVE26-</italic>Related Hereditary Spastic Paraplegia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alecu</surname><given-names>Julian E</given-names></name><email>julian.alecu@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Blackstone</surname><given-names>Craig</given-names></name><degrees>MD, PhD</degrees><email>cblackstone@mgh.harvard.edu</email></contrib></contrib-group><?date-created 20210527?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg15.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg15.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg15\" document-type=\"chapter\" object-id=\"spg15.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg3a\"><title>Spastic Paraplegia 3A</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">ATL1</italic>-HSP, SPG3A</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hedera</surname><given-names>Peter</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>University of Louisville<break/>Louisville, Kentucky</aff><email>phederabna@gmail.com</email></contrib></contrib-group><?date-created 20100921?><?date-updated 20200618?><?date-revised 20120209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg3a.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg3a.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg3a\" document-type=\"chapter\" object-id=\"spg3a.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg4\"><title>Spastic Paraplegia 4</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">SPAST</italic>-HSP, SPG4</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parodi</surname><given-names>Livia</given-names></name><degrees>PhD</degrees><email>livia.parodi@icm-institute.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rydning</surname><given-names>Siri Lynne</given-names></name><degrees>MD</degrees><email>s.l.rydning@medisin.uio.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tallaksen</surname><given-names>Chantal</given-names></name><degrees>MD, PhD</degrees><email>chantal.tallaksen@medisin.uio.no</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Durr</surname><given-names>Alexandra</given-names></name><degrees>MD, PhD</degrees><email>alexandra.durr@icm-institute.org</email></contrib></contrib-group><?date-created 20030417?><?date-updated 20190613?><?date-revised 20070423?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg4\" document-type=\"chapter\" object-id=\"spg4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg8\"><title>Spastic Paraplegia 8</title><subtitle content-type=\"alt-title\">Synonym: SPG8</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meijer</surname><given-names>Inge A</given-names></name><degrees>MD, PhD</degrees><aff>CHU Sainte-Justine\nUniversit&#x000e9; de Montr&#x000e9;al\nMontreal, Quebec, Canada</aff><email>inge.meijer@umontreal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Valdmanis</surname><given-names>Paul N</given-names></name><degrees>PhD</degrees><aff>Division of Medical Genetics\nDepartment of Medicine\nUniversity of Washington\nSeattle, Washington</aff><email>paulnv@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rouleau</surname><given-names>Guy A</given-names></name><degrees>MD, PhD</degrees><aff>Montreal Neurological Hospital and Institute\nMcGill University\nMontreal, Quebec, Canada</aff><email>guy.rouleau@mcgill.ca</email></contrib></contrib-group><?date-created 20080813?><?date-updated 20200521?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg8.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg8.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg8\" document-type=\"chapter\" object-id=\"spg8.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg7\"><title><italic toggle=\"yes\">SPG7</italic>-Related Neurologic Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hedera</surname><given-names>Peter</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Department of Neurology<break/>University of Louisville, Louisville, Kentucky</aff><email>peter.hedera@louisville.edu</email></contrib></contrib-group><?date-created 20060824?><?date-updated 20260108?><?date-revised 20080225?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg7.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg7.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg7\" document-type=\"chapter\" object-id=\"spg7.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sgpl1\"><title>Sphingosine Phosphate Lyase Insufficiency Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Familial Steroid-Resistant Nephrotic Syndrome with Adrenal Insufficiency; NPHS14; Renal, Endocrine, Neurological, and Immune (RENI) Syndrome; SGPL1 Deficiency; Steroid-Resistant Nephrotic Syndrome Type 14</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weaver</surname><given-names>Kathryn Nicole</given-names></name><degrees>MD</degrees><email>kathryn.weaver@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sullivan</surname><given-names>Bonnie</given-names></name><degrees>MD</degrees><email>brsullivan@cmh.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hildebrandt</surname><given-names>Friedhelm</given-names></name><degrees>MD</degrees><email>friedhelm.hildebrandt@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Strober</surname><given-names>Jonathan</given-names></name><degrees>MD</degrees><email>jonathan.strober@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prasad</surname><given-names>Rathi</given-names></name><degrees>MBBS, PhD</degrees><email>rathi.prasad1@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saba</surname><given-names>Julie</given-names></name><degrees>MD, PhD</degrees><email>julie.saba@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Samuel</surname><given-names>Maryia</given-names></name><degrees>BSc, MSc</degrees><email>maryia.samuel@ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert</given-names></name><degrees>MD, FRCPC</degrees><email>hegele@robarts.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McIntyre</surname><given-names>Adam</given-names></name><degrees>BSc</degrees><email>amcintyre@robarts.ca</email></contrib></contrib-group><?date-created 20201015?><?date-updated 20260409?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sgpl1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sgpl1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sgpl1\" document-type=\"chapter\" object-id=\"sgpl1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_kennedy\"><title>Spinal and Bulbar Muscular Atrophy</title><subtitle content-type=\"alt-title\">Synonyms: Kennedy's Disease, SBMA, X-Linked Spinal and Bulbar Muscular Atrophy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>La Spada</surname><given-names>Albert</given-names></name><degrees>MD, PhD</degrees><aff>University of California Irvine School of Medicine<break/>Irvine, California</aff><email>alaspada@hs.uci.edu</email></contrib></contrib-group><?date-created 19990226?><?date-updated 20221215?><?date-revised 20260108?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_kennedy.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_kennedy.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"kennedy\" document-type=\"chapter\" object-id=\"kennedy.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sma\"><title>Spinal Muscular Atrophy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Prior</surname><given-names>Thomas W</given-names></name><degrees>PhD, FACMG</degrees><email>thomas.prior@uhhospitals.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leach</surname><given-names>Meganne E</given-names></name><degrees>MSN, PNP</degrees><email>leachm@ohsu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Finanger</surname><given-names>Erika L</given-names></name><degrees>MD</degrees><email>finanger@ohsu.edu</email></contrib></contrib-group><?date-created 20000224?><?date-updated 20240919?><?date-revised 20260212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sma.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma\" document-type=\"chapter\" object-id=\"sma.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sma-xli\"><title>Spinal Muscular Atrophy, X-Linked Infantile</title><subtitle content-type=\"alt-title\">Synonyms: SMAX2, XL-SMA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baumbach-Reardon</surname><given-names>Lisa</given-names></name><degrees>PhD, FACMG</degrees><aff>Associate Professor, Dr Kiran C Patel College of Medicine<break/>Tampa Bay Campus<break/>Clearwater, Florida</aff><email>lreardon@nova.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hunter</surname><given-names>JM</given-names></name><degrees>PhD, FACMG</degrees><aff>Clinical Lab Director, Institute for Genomic Medicine<break/>Nationwide Children's Hospital<break/>Columbus, Ohio</aff><email>jeshnt@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahearn</surname><given-names>Mary Ellen</given-names></name><degrees>MS</degrees><aff>Research Operations Manager, Translational Genomics Research Institute<break/>Phoenix, Arizona</aff><email>meahearn@tgen.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pfautsch</surname><given-names>Miranda</given-names></name><degrees>DO candidate</degrees><aff>Dr Kiran C Patel College of Medicine<break/>Tampa Bay Campus<break/>Clearwater, Florida</aff><email>mp2771@mynsu.nova.edu</email></contrib></contrib-group><?date-created 20081030?><?date-updated 20210729?><?date-revised 20240509?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sma-xli.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sma-xli.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sma-xli\" document-type=\"chapter\" object-id=\"sma-xli.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca10\"><title>Spinocerebellar Ataxia Type 10</title><subtitle content-type=\"alt-title\">Synonym: SCA10</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Matsuura</surname><given-names>Tohru</given-names></name><degrees>MD</degrees><aff>Division of Neurology<break/>Department of Internal Medicine<break/>Jichi Medical University<break/>Tochigi, Japan</aff><email>tohrum@jichi.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ashizawa</surname><given-names>Tetsuo</given-names></name><degrees>MD</degrees><aff>Director, Neuroscience Research Program<break/>Houston Methodist Research Institute<break/>Houston, Texas</aff><email>tashizawa@houstonmethodist.org</email></contrib></contrib-group><?date-created 20020423?><?date-updated 20190919?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca10.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca10.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca10\" document-type=\"chapter\" object-id=\"sca10.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca11\"><title>Spinocerebellar Ataxia Type 11</title><subtitle content-type=\"alt-title\">Synonym: SCA11</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Zhongbo</given-names></name><degrees>MA, BM BCh, MRCP</degrees><email>zhongbo.chen@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Puzriakova</surname><given-names>Arina</given-names></name><degrees>BSc, MSc</degrees><email>arina.puzriakova.18@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib></contrib-group><?date-created 20080722?><?date-updated 20191031?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca11.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca11.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca11\" document-type=\"chapter\" object-id=\"sca11.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca13\"><title>Spinocerebellar Ataxia Type 13</title><subtitle content-type=\"alt-title\">Synonym: SCA13</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waters</surname><given-names>Michael F</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Neurology\nBarrow Neurological Institute\nPhoenix, Arizona</aff><email>michael.waters@dignityhealth.org</email></contrib></contrib-group><?date-created 20061109?><?date-updated 20200604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca13.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca13.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca13\" document-type=\"chapter\" object-id=\"sca13.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca14\"><title>Spinocerebellar Ataxia Type 14</title><subtitle content-type=\"alt-title\">Synonym: SCA14</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Dong-Hui</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology\nUniversity of Washington Medical Center\nSeattle, Washington</aff><email>cdhui@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bird</surname><given-names>Thomas D</given-names></name><degrees>MD</degrees><aff>Departments of Neurology and Medicine\nUniversity of Washington;\nSeattle VA Medical Center\nSeattle, Washington</aff><email>tomnroz@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raskind</surname><given-names>Wendy H</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Departments of Medicine and Psychiatry and Behavioral Sciences\nUniversity of Washington Medical Center\nSeattle, Washington</aff><email>wendyrun@uw.edu</email></contrib></contrib-group><?date-created 20050128?><?date-updated 20200220?><?date-revised 20051221?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca14.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca14.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca14\" document-type=\"chapter\" object-id=\"sca14.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca17\"><title>Spinocerebellar Ataxia Type 17</title><subtitle content-type=\"alt-title\">Synonyms: Huntington Disease-Like 4, SCA17</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Toyoshima</surname><given-names>Yasuko</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology<break/>Brain Disease Center<break/>Agano Hospital<break/>Agano, Japan</aff><email>toyoshima@agano.or.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Onodera</surname><given-names>Osamu</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Department of Neurology<break/>Brain Research Institute<break/>Niigata University<break/>Niigata, Japan</aff><email>onodera@bri.niigata-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yamada</surname><given-names>Mitsunori</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Division of Neuropathology<break/>Department of Brain Disease Research<break/>Shinshu University School of Medicine<break/>Matsumoto, Japan</aff><email>nori@shinshu-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tsuji</surname><given-names>Shoji</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Department of Neurology<break/>University of Tokyo Graduate School of Medicine<break/>Tokyo, Japan</aff><email>tsuji@m.u-tokyo.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Takahashi</surname><given-names>Hitoshi</given-names></name><degrees>MD, PhD</degrees><aff>Executive Vice-President for Research<break/>Niigata University<break/>Niigata, Japan</aff><email>hitoshi@bri.niigata-u.ac.jp</email></contrib></contrib-group><?date-created 20050329?><?date-updated 20190912?><?date-revised 20220728?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca17.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca17.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca17\" document-type=\"chapter\" object-id=\"sca17.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca1\"><title>Spinocerebellar Ataxia Type 1</title><subtitle content-type=\"alt-title\">Synonym: SCA1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Opal</surname><given-names>Puneet</given-names></name><degrees>MD, PhD</degrees><aff>Director, Ataxia Clinic<break/>Department of Neurology<break/>Northwestern Feinberg School of Medicine<break/>Chicago, Illinois</aff><email>p-opal@northwestern.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ashizawa</surname><given-names>Tetsuo</given-names></name><degrees>MD</degrees><aff>Director, Neuroscience Research Program<break/>Houston Methodist Research Institute<break/>Houston, Texas</aff><email>tashizawa@houstonmethodist.org</email></contrib></contrib-group><?date-created 19981001?><?date-updated 20230202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca1\" document-type=\"chapter\" object-id=\"sca1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca20\"><title>Spinocerebellar Ataxia Type 20</title><subtitle content-type=\"alt-title\">Synonym: SCA20</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Storey</surname><given-names>Elsdon</given-names></name><degrees>DPhil, FRACP</degrees><aff>Director, Van Cleef Roet Centre for Nervous Diseases<break/>Head, Department of Neuroscience<break/>Department of Medicine (Neuroscience)<break/>Monash University (Alfred Hospital Campus)<break/>Neurologist to Neurogenetics Clinics<break/>Alfred, Saint Vincent's, and Royal Melbourne Hospitals<break/>Melbourne, Victoria, Australia</aff><email>elsdon.storey@med.monash.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gardner</surname><given-names>RJM</given-names></name><degrees>MB ChB, FCCMG</degrees><aff>Clinical Genetics Group<break/>University of Otago<break/>Dunedin, New Zealand</aff><email>macgardner@gmail.com</email></contrib></contrib-group><?date-created 20070227?><?date-updated 20190418?><?date-revised 20090106?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca20.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca20.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca20\" document-type=\"chapter\" object-id=\"sca20.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca2\"><title>Spinocerebellar Ataxia Type 2</title><subtitle content-type=\"alt-title\">Synonym: SCA2</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pulst</surname><given-names>Stefan M</given-names></name><degrees>MD</degrees><aff>Department of Neurology\nUniversity of Utah\nSalt Lake City, Utah</aff><email>stefan.pulst@hsc.utah.edu</email></contrib></contrib-group><?date-created 19981023?><?date-updated 20190214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca2\" document-type=\"chapter\" object-id=\"sca2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca37\"><title>Spinocerebellar Ataxia Type 37</title><subtitle content-type=\"alt-title\">Synonyms: SCA37</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Matilla-Due&#x000f1;as</surname><given-names>Antoni</given-names></name><degrees>BSc, MSc, PhD</degrees><aff>Neurogenetics Unit<break/>Neuroscience Department<break/>Germans Trias i Pujol Research Institute (IGTP)<break/>Badalona, Spain</aff><email>amatilla@igtp.cat</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Volpini</surname><given-names>Victor</given-names></name><degrees>MD, PhD</degrees><aff>Molecular Genetics Center<break/>Bellvitge Biomedical Research Institute (IDIBELL)<break/>L'Hospitalet de Llobregat<break/>Barcelona, Spain</aff><email>vvolpini@idibell.cat</email></contrib></contrib-group><?date-created 20190530?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca37.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca37.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca37\" document-type=\"chapter\" object-id=\"sca37.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca38\"><title>Spinocerebellar Ataxia Type 38</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brusco</surname><given-names>Alfredo</given-names></name><degrees>PhD</degrees><aff>Associate Professor in Medical Genetics, Department of Medical Sciences<break/>University of Turin<break/>Turin, Italy</aff><email>alfredo.brusco@unito.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Di Gregorio</surname><given-names>Eleonora</given-names></name><degrees>PhD</degrees><aff>Biologist, Citt&#x000e0; della Salute e della Scienza University Hospital<break/>Turin, Italy</aff><email>ele.digregorio@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Borroni</surname><given-names>Barbara</given-names></name><degrees>MD</degrees><aff>Associate Professor of Neurology, Neurology Unit<break/>Department of Clinical and Experimental Sciences<break/>University of Brescia<break/>Brescia, Italy</aff><email>barbara.borroni@unibs.it</email></contrib></contrib-group><?date-created 20190711?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca38.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca38.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca38\" document-type=\"chapter\" object-id=\"sca38.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca3\"><title>Spinocerebellar Ataxia Type 3</title><subtitle content-type=\"alt-title\">Synonyms: Machado-Joseph Disease, SCA3</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paulson</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><aff>Professor, Department of Neurology<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>henryp@umich.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shakkottai</surname><given-names>Vikram</given-names></name><degrees>MD, PhD</degrees><aff>Associate Professor, Departments of Neurology and of Molecular and Integrative Physiology<break/>University of Michigan Medical School<break/>Ann Arbor, Michigan</aff><email>vikramsh@med.umich.edu</email></contrib></contrib-group><?date-created 19981010?><?date-updated 20200604?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca3.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca3.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca3\" document-type=\"chapter\" object-id=\"sca3.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca4\"><title>Spinocerebellar Ataxia Type 4</title><subtitle content-type=\"alt-title\">Synonyms: SCA4, Spinocerebellar Ataxia 4</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Puschmann</surname><given-names>Andreas</given-names></name><degrees>MD, PhD</degrees><email>andreas.puschmann@med.lu.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobloug</surname><given-names>Sigurd</given-names></name><degrees>MD</degrees><email>sigurd.dobloug@med.lu.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wallenius</surname><given-names>Joel</given-names></name><degrees>MSc</degrees><email>joel.wallenius@skane.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wictorin</surname><given-names>Klas</given-names></name><degrees>MD, PhD</degrees><email>klas.wictorin@skane.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gorcenco</surname><given-names>Sorina</given-names></name><degrees>MD, PhD</degrees><email>sorina.gorcenco@med.lu.se</email></contrib></contrib-group><?date-created 20241212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca4\" document-type=\"chapter\" object-id=\"sca4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca6\"><title>Spinocerebellar Ataxia Type 6</title><subtitle content-type=\"alt-title\">Synonym: SCA6</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Casey</surname><given-names>Hannah L</given-names></name><degrees>BS</degrees><email>hannahcasey@neurology.bsd.uchicago.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gomez</surname><given-names>Christopher M</given-names></name><degrees>MD, PhD</degrees><email>cgomez@neurology.bsd.uchicago.edu</email></contrib></contrib-group><?date-created 19981023?><?date-updated 20191121?><?date-revised 20080616?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca6.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca6.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca6\" document-type=\"chapter\" object-id=\"sca6.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca7\"><title>Spinocerebellar Ataxia Type 7</title><subtitle content-type=\"alt-title\">Synonym: SCA7</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>La Spada</surname><given-names>Albert R</given-names></name><degrees>MD, PhD</degrees><aff>Distinguished Professor and Vice Chair, Departments of Pathology &#x00026; Laboratory Medicine and Neurology\nDirector, UCI Institute for Neurotherapeutics\nUniversity of California Irvine School of Medicine\nIrvine, California</aff><email>alaspada@uci.edu</email></contrib></contrib-group><?date-created 19980827?><?date-updated 20200723?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca7.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca7.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca7\" document-type=\"chapter\" object-id=\"sca7.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sca8\"><title>Spinocerebellar Ataxia Type 8</title><subtitle content-type=\"alt-title\">Synonym: SCA8</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cleary</surname><given-names><?break?>John Douglas</given-names></name><degrees>PhD</degrees><aff>Center for NeuroGenetics<break/>Department of Molecular Genetics &#x00026; Microbiology<break/>College of Medicine<break/>University of Florida<break/>Gainesville, Florida</aff><email>john.cleary@ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Subramony</surname><given-names>SH</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>University of Florida<break/>Gainesville, Florida</aff><email>s.subramony@neurology.ufl.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ranum</surname><given-names>Laura PW</given-names></name><degrees>PhD</degrees><aff>Center for NeuroGenetics<break/>Department of Molecular Genetics &#x00026; Microbiology<break/>Department of Neurology<break/>Genetics Institute<break/>College of Medicine<break/>University of Florida<break/>Gainesville, Florida</aff><email>ranum@ufl.edu</email></contrib></contrib-group><?date-created 20011127?><?date-updated 20210422?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sca8.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sca8.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sca8\" document-type=\"chapter\" object-id=\"sca8.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_scan1\"><title>Spinocerebellar Ataxia with Axonal Neuropathy Type 1</title><subtitle content-type=\"alt-title\">Synonym: SCAN1, <italic toggle=\"yes\">TDP1</italic>-Related Spinocerebellar Ataxia with Axonal Neuropathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Salih</surname><given-names>Mustafa AM</given-names></name><degrees>MD, Dr Med Sci, FRCPCH</degrees><aff>Division of Pediatric Neurology<break/>College of Medicine<break/>King Saud University<break/>Riyadh, Saudi Arabia</aff><email>mustafa_salih05@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Takashima</surname><given-names>Hiroshi</given-names></name><degrees>MD, PhD</degrees><aff>Department of Neurology and Geriatrics<break/>Kagoshima University Graduate School of Medical and Dental Sciences<break/>Kagoshima, Japan</aff><email>thiroshi@m3.kufm.kagoshima-u.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boerkoel</surname><given-names>Cornelius F</given-names></name><degrees>MD, PhD</degrees><aff>Provincial Medical Genetics Program<break/>Child and Family Research Institute<break/>Department of Medical Genetics<break/>University of British Columbia<break/>Vancouver, Canada</aff><email>boerkoel@interchange.ubc.ca</email><email>cornelius.boerkoel@ubc.ca</email></contrib></contrib-group><?date-created 20071022?><?date-updated 20220630?><?date-revised 20121220?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_scan1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_scan1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"scan1\" document-type=\"chapter\" object-id=\"scan1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spondylocostal-d\"><title>Spondylocostal Dysostosis, Autosomal Recessive</title><subtitle content-type=\"alt-title\">Synonyms: Costovertebral Dysplasia, Spondylocostal Dysplasia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Turnpenny</surname><given-names>Peter D</given-names></name><degrees>BSc, MB, ChB, FRCP, FRCPCH, FRCPath</degrees><email>peter.turnpenny@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sloman</surname><given-names>Melissa</given-names></name><degrees>BSc, DipRCPath</degrees><email>melissa.sloman@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dunwoodie</surname><given-names>Sally</given-names></name><degrees>BSc, PhD</degrees><email>s.dunwoodie@victorchang.edu.au</email></contrib></contrib-group><?date-created 20090825?><?date-updated 20230817?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spondylocostal-d.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Clinical_Characteristic\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Clinical_Characteristic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Genetically_Related_All\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Genetically_Related_All\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spondylocostal-d.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spondylocostal-d\" document-type=\"chapter\" object-id=\"spondylocostal-d.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_smdcf\"><title>Spondylometaphyseal Dysplasia, Corner Fracture Type</title><subtitle content-type=\"alt-title\">Synonym: Spondylometaphyseal Dysplasia Sutcliffe</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>England</surname><given-names>Jade</given-names></name><degrees>MD, MSc</degrees><email>jade.england@umontreal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Campeau</surname><given-names>Philippe M</given-names></name><degrees>MD</degrees><email>p.campeau@umontreal.ca</email></contrib></contrib-group><?date-created 20200319?><?date-updated 20250522?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_smdcf.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_smdcf.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"smdcf\" document-type=\"chapter\" object-id=\"smdcf.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sptbn4\"><title><italic toggle=\"yes\">SPTBN4</italic> Disorder</title><subtitle content-type=\"alt-title\">Synonym: Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (NEDHND)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ortiz-Gonzalez</surname><given-names>Xilma</given-names></name><degrees>MD, PhD</degrees><aff>Children's Hospital of Philadelphia<break/>Philadelphia, Pennsylvania</aff><email>ortizgonzalez@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wierenga</surname><given-names>Klaas</given-names></name><degrees>MD</degrees><aff>Mayo Clinic Florida<break/>Jacksonville, Florida</aff><email>wierenga.klaas@mayo.edu</email></contrib></contrib-group><?date-created 20200716?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sptbn4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sptbn4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sptbn4\" document-type=\"chapter\" object-id=\"sptbn4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hsn1\"><title><italic toggle=\"yes\">SPTLC1</italic>-Related Hereditary Sensory Neuropathy</title><subtitle content-type=\"alt-title\">Synonyms: Hereditary Sensory and Autonomic Neuropathy Type IA, Hereditary Sensory Neuropathy Type IA, HSAN1A, HSN1A</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nicholson</surname><given-names>Garth A</given-names></name><degrees>MBBS, PhD</degrees><aff>Department of Medicine\nUniversity of Sydney\nHereditary Neuropathies Clinic and Molecular Medicine Laboratory\nConcord Hospital\nSydney, Australia</aff><email>garth.nicholson@sydney.edu.au</email></contrib></contrib-group><?date-created 20020923?><?date-updated 20181121?><?date-revised 20211202?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hsn1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsn1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsn1\" document-type=\"chapter\" object-id=\"hsn1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ss-def\"><title>Squalene Synthase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Coman</surname><given-names>David</given-names></name><degrees>MBBS, MPhil, FRACP</degrees><aff>Department of Metabolic Medicine<break/>Queensland Children&#x02019;s Hospital<break/>Brisbane, Australia</aff><email>david.coman@health.qld.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vissers</surname><given-names>Lisenka</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics<break/>Donders Institute for Brain, Cognition and Behavior<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>lisenka.vissers@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Waterham</surname><given-names>Hans</given-names></name><degrees>PhD</degrees><aff>Laboratory Genetic Metabolic Diseases<break/>Academic Medical Center<break/>University of Amsterdam<break/>Amsterdam, the Netherlands</aff><email>h.r.waterham@amc.uva.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Christodoulou</surname><given-names>John</given-names></name><degrees>MBBS, PhD</degrees><aff>Director, Genetics Research Theme<break/>Murdoch Children&#x02019;s Research Institute<break/>Chair of Genomic Medicine, Department of Paediatrics<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>john.christodoulou@mcri.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wevers</surname><given-names>Ron A</given-names></name><degrees>PhD</degrees><aff>Translational Metabolic Laboratory<break/>Department of Laboratory Medicine<break/>Radboud University Medical Center<break/>Nijmegen, the Netherlands</aff><email>ron.wevers@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pitt</surname><given-names>James</given-names></name><degrees>PhD</degrees><aff>Victorian Clinical Genetics Services<break/>Murdoch Children's Research Institute<break/>Melbourne, Australia</aff><email>james.pitt@vcgs.org.au</email></contrib></contrib-group><?date-created 20200206?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ss-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ss-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ss-def\" document-type=\"chapter\" object-id=\"ss-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_fhs\"><title><italic toggle=\"yes\">SRCAP-</italic>Related Floating-Harbor Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nowaczyk</surname><given-names>Malgorzata JM</given-names></name><degrees>MD, FRCPC, FCCMG, FACMG</degrees><aff>Department of Pathology and Molecular Medicine<break/>McMaster University<break/>Hamilton, Ontario, Canada</aff><email>nowaczyk@hhsc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nikkel</surname><given-names>Sarah M</given-names></name><degrees>MD, FRCPC, FCCMG</degrees><aff>Department of Medical Genetics<break/>BC Women's and Children's Hospital<break/>Vancouver, British Columbia, Canada</aff><email>sarah.nikkel@cw.bc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>White</surname><given-names>Susan M</given-names></name><degrees>MD, FRACP</degrees><aff>Victorian Clinical Genetics Service<break/>Murdoch Children's Research Institute<break/>Royal Children's Hospital<break/>Victoria, Australia</aff><email>sue.white@vcgs.org.au</email></contrib></contrib-group><?date-created 20121129?><?date-updated 20250410?><?date-revised 20130124?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_fhs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_fhs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"fhs\" document-type=\"chapter\" object-id=\"fhs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_stac3-dis\"><title><italic toggle=\"yes\">STAC3</italic> Disorder</title><subtitle content-type=\"alt-title\">Synonym: Native American Myopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Webb</surname><given-names>Bryn D</given-names></name><degrees>MD</degrees><email>bryn.webb@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Manoli</surname><given-names>Irini</given-names></name><degrees>MD, PhD</degrees><email>manolii@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jabs</surname><given-names>Ethylin Wang</given-names></name><degrees>MD</degrees><email>ethylin.jabs@mssm.edu</email></contrib></contrib-group><?date-created 20190620?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_stac3-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stac3-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stac3-dis\" document-type=\"chapter\" object-id=\"stac3-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_higes\"><title><italic toggle=\"yes\">STAT3</italic> Hyper IgE Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Job Syndrome, STAT3-Deficient Hyper-IgE Syndrome, STAT3 Deficiency, <italic toggle=\"yes\">STAT3</italic>-HIES, <italic toggle=\"yes\">STAT3</italic> Loss-of-Function Hyper-IgE Syndrome (<italic toggle=\"yes\">STAT3</italic> LOF HIES)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hsu</surname><given-names>Amy P</given-names></name><degrees>BA</degrees><email>twins@niaid.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Davis</surname><given-names>Joie</given-names></name><degrees>PNP-BC, APNG</degrees><email>jdavis@niaid.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Puck</surname><given-names>Jennifer M</given-names></name><degrees>MD</degrees><email>puckj@peds.ucsf.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Holland</surname><given-names>Steven M</given-names></name><degrees>MD</degrees><email>sholland@niaid.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Freeman</surname><given-names>Alexandra F</given-names></name><degrees>MD</degrees><email>freemaal@niaid.nih.gov</email></contrib></contrib-group><?date-created 20100223?><?date-updated 20200326?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_higes.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_higes.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"higes\" document-type=\"chapter\" object-id=\"higes.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_stickler\"><title>Stickler Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Arthroophthalmopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mortier</surname><given-names>Geert</given-names></name><degrees>MD, PhD</degrees><aff>Center for Human Genetics<break/>University Hospitals Leuven<break/>Leuven, Belgium</aff><email>geert.mortier@uzleuven.be</email></contrib></contrib-group><?date-created 20000609?><?date-updated 20230907?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_stickler.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stickler.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stickler\" document-type=\"chapter\" object-id=\"stickler.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_strc-hearing-loss\"><title><italic toggle=\"yes\">STRC</italic>-Related Autosomal Recessive Hearing Loss</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">STRC</italic>-Related Sensorineural Hearing Loss</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Redfield</surname><given-names>Shelby</given-names></name><degrees>MS, CGC</degrees><email>shelby.redfield@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shearer</surname><given-names>A Eliot</given-names></name><degrees>MD, PhD</degrees><email>eliot.shearer@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20231214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_strc-hearing-loss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_strc-hearing-loss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"strc-hearing-loss\" document-type=\"chapter\" object-id=\"strc-hearing-loss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_stromme\"><title>Str&#x000f8;mme Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Apple Peel Syndrome with Microcephaly and Ocular Anomalies, Jejunal Atresia with Microcephaly and Ocular Anomalies</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ho</surname><given-names>Stephanie KL</given-names></name><degrees>MD</degrees><email>stephanie_kl_ho@dh.gov.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leung</surname><given-names>Lai Ting</given-names></name><degrees>MD</degrees><email>mo_cg1@dh.gov.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Luk</surname><given-names>Ho-ming</given-names></name><degrees>MD</degrees><email>lukhm@ha.org.hk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lo</surname><given-names>Ivan FM</given-names></name><degrees>MD</degrees><email>con_cg@dh.gov.hk</email></contrib></contrib-group><?date-created 20221110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_stromme.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stromme.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stromme\" document-type=\"chapter\" object-id=\"stromme.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_stxbp1-ee\"><title><italic toggle=\"yes\">STXBP1</italic> Encephalopathy with Epilepsy</title><subtitle content-type=\"alt-title\">Synonyms: Early-Infantile Epileptic Encephalopathy 4 (EIEE4), <italic toggle=\"yes\">STXBP1</italic> Epileptic Encephalopathy, <italic toggle=\"yes\">STXBP1</italic>-Related Developmental and Epileptic Encephalopathy (<italic toggle=\"yes\">STXBP1</italic>-DEE)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mercimek-Andrews</surname><given-names>Saadet</given-names></name><degrees>MD, PhD, FCCMG, FRCPC</degrees><aff>Department of Medical Genetics<break/>Faculty of Medicine and Dentistry<break/>University of Alberta<break/>Alberta Health Services<break/>Edmonton, Alberta, Canada</aff><email>saadet@ualberta.ca</email></contrib></contrib-group><?date-created 20161201?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_stxbp1-ee.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_stxbp1-ee.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"stxbp1-ee\" document-type=\"chapter\" object-id=\"stxbp1-ee.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ssadh\"><title>Succinic Semialdehyde Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: 4-Hydroxybutyric Aciduria, Gamma-Hydroxybutyric Aciduria, SSADH Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tokatly Latzer</surname><given-names>Itay</given-names></name><degrees>MD</degrees><email>itay.tokatlylatzer@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pearl</surname><given-names>Phillip L</given-names></name><degrees>MD</degrees><email>phillip.pearl@childrens.harvard.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roullet</surname><given-names>Jean-Baptiste</given-names></name><degrees>PhD</degrees><email>j.roullet@wsu.edu</email></contrib></contrib-group><?date-created 20040505?><?date-updated 20250109?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ssadh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ssadh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ssadh\" document-type=\"chapter\" object-id=\"ssadh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sucla2-def\"><title><italic toggle=\"yes\">SUCLA2</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</title><subtitle content-type=\"alt-title\">Synonym: SUCLA2 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>fscaglia@bcm.edu</email></contrib></contrib-group><?date-created 20090526?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sucla2-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sucla2-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sucla2-def\" document-type=\"chapter\" object-id=\"sucla2-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_suclg1-mtddepl\"><title><italic toggle=\"yes\">SUCLG1</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</title><subtitle content-type=\"alt-title\">Synonyms: SUCLG1 Deficiency, <italic toggle=\"yes\">SUCLG1</italic>-Related Succinyl-CoA Ligase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Associate Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>fscaglia@bcm.edu</email></contrib></contrib-group><?date-created 20170330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_suclg1-mtddepl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_suclg1-mtddepl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"suclg1-mtddepl\" document-type=\"chapter\" object-id=\"suclg1-mtddepl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_syncrip-ndd\"><title><italic toggle=\"yes\">SYNCRIP</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">HNRNPQ</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balasubramanian</surname><given-names>Meena</given-names></name><degrees>MBBS, DCH, FRCPCH, MD, FHEA</degrees><aff>Professor of Medical Genetics, Division of Clinical Medicine, University of Sheffield;<break/>Honorary Consultant Clinical Geneticist, Sheffield Clinical Genomics Service;<break/>Director of Research, Sheffield Children's NHS Foundation Trust<break/>Sheffield, United Kingdome</aff><email>m.balasubramanian@sheffield.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bain</surname><given-names>Jennifer M</given-names></name><degrees>MD, PhD, FCNS</degrees><aff>Associate Professor of Neurology and Pediatrics<break/>Columbia University Irving Medical Center<break/>New York, New York</aff><email>jb3634@cumc.columbia.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gillentine</surname><given-names>Madelyn A</given-names></name><degrees>PhD</degrees><aff>Scientific Director, HNRNP Family Foundation;<break/>Clinical Genomics Scientist, Baylor Genetics<break/>Houston, Texas</aff><email>maddie@hnrnp.org</email></contrib></contrib-group><?date-created 20260519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_syncrip-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syncrip-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syncrip-ndd\" document-type=\"chapter\" object-id=\"syncrip-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_syne1ca-ar\"><title>SYNE1 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Beaudin</surname><given-names>Marie</given-names></name><degrees>MD</degrees><email>marie.beaudin.1@ulaval.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gamache</surname><given-names>Pierre-Luc</given-names></name><degrees>MD, PhD</degrees><email>pierre-luc.gamache.1@ulaval.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gros-Louis</surname><given-names>Fran&#x000e7;ois</given-names></name><degrees>PhD</degrees><email>francois.gros-louis@fmed.ulaval.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dupr&#x000e9;</surname><given-names>Nicolas</given-names></name><degrees>MD, MSc</degrees><email>nicolas.dupre.cha@ssss.gouv.qc.ca</email></contrib></contrib-group><?date-created 20070223?><?date-updated 20181206?><?date-revised 20111013?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_syne1ca-ar.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syne1ca-ar.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syne1ca-ar\" document-type=\"chapter\" object-id=\"syne1ca-ar.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_syngap1-id\"><title><italic toggle=\"yes\">SYNGAP1</italic>-Related Intellectual Disability</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">SYNGAP1</italic>-Related Developmental and Epileptic Encephalopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Holder</surname><given-names>J Lloyd</given-names><suffix>Jr</suffix></name><degrees>MD, PhD</degrees><email>holder@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hamdan</surname><given-names>Fadi F</given-names></name><degrees>PhD</degrees><email>fadi.hamdan@recherche-ste-justine.qc.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Michaud</surname><given-names>Jacques L</given-names></name><degrees>MD</degrees><email>jacques.michaud@recherche-ste-justine.qc.ca</email></contrib></contrib-group><?date-created 20190221?><?date-revised 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_syngap1-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_syngap1-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"syngap1-id\" document-type=\"chapter\" object-id=\"syngap1-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-T?><toc-entry id=\"toc_taf8-ndd\"><title><italic toggle=\"yes\">TAF8</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: TAF8 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Falik Zaccai</surname><given-names>Tzipora C</given-names></name><degrees>MD</degrees><email>falikmd.genetics@gmail.com</email><email>tzipora.falik-zaccai@biu.ac.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mesika</surname><given-names>Aviv</given-names></name><email>avivmaskia@gmail.com</email></contrib></contrib-group><?date-created 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_taf8-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_taf8-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"taf8-ndd\" document-type=\"chapter\" object-id=\"taf8-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tangier\"><title>Tangier Disease</title><subtitle content-type=\"alt-title\">Synonyms: Analphalipoproteinemia, Familial High-Density Lipoprotein Deficiency 1, Primary Hypoalphalipoproteinemia 1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burnett</surname><given-names>John R</given-names></name><degrees>MB ChB, MD, PhD, FRCPA</degrees><email>john.burnett@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hooper</surname><given-names>Amanda J</given-names></name><degrees>PhD</degrees><email>amanda.hooper@health.wa.gov.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McCormick</surname><given-names>Sally PA</given-names></name><degrees>PhD</degrees><email>sally.mccormick@otago.ac.nz</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hegele</surname><given-names>Robert A</given-names></name><degrees>MD, FRCPC, FACP</degrees><email>hegele@robarts.ca</email></contrib></contrib-group><?date-created 20191121?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tangier.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tangier.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tangier\" document-type=\"chapter\" object-id=\"tangier.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tango2-mea\"><title>TANGO2 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: TANGO2 Deficiency Disorder, <italic toggle=\"yes\">TANGO2</italic>-Related Metabolic Encephalopathy and Arrhythmias</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miyake</surname><given-names>Christina Y</given-names></name><degrees>MD, MS</degrees><email>cymiyake@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Burrage</surname><given-names>Lindsay</given-names></name><degrees>MD, PhD</degrees><email>burrage@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Glinton</surname><given-names>Kevin</given-names></name><degrees>MD, PhD</degrees><email>Kevin.Glinton@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houck</surname><given-names>Kimberly</given-names></name><degrees>MD</degrees><email>kmhouck@texaschildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoyos-Martinez</surname><given-names>Alfonso</given-names></name><degrees>MD</degrees><email>axhoyosm@texaschildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Graham</surname><given-names>Brett</given-names></name><degrees>MD, PhD</degrees><email>bregraha@iu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Yang</surname><given-names>Yaping</given-names></name><degrees>PhD</degrees><email>yapingy@ailifeus.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rawls-Castillo</surname><given-names>Brandy</given-names></name><degrees>MS, RD, LD</degrees><email>blrawls@texaschildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Scaglia</surname><given-names>Fernando</given-names></name><degrees>MD</degrees><email>fscaglia@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Soler-Alfonso</surname><given-names>Claudia</given-names></name><degrees>MD</degrees><email>soler@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lalani</surname><given-names>Seema R</given-names></name><degrees>MD</degrees><email>seemal@bcm.tmc.edu</email></contrib></contrib-group><?date-created 20180125?><?date-updated 20230309?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tango2-mea.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tango2-mea.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tango2-mea\" document-type=\"chapter\" object-id=\"tango2-mea.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tardbp-als\"><title><italic toggle=\"yes\">TARDBP</italic>-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">TARDBP</italic>-ALS-FTD, TDP-43 Proteinopathy, TDP-43-Linked ALS-FTD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Manohar</surname><given-names>Vaishnavi</given-names></name><degrees>MTech</degrees><email>vaishnavi.1.manohar@kcl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crowley</surname><given-names>Leon</given-names></name><degrees>MSc</degrees><email>leon.crowley@kcl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sreedharan</surname><given-names>Jemeen</given-names></name><degrees>BSc, MBBS, MRCP, PhD</degrees><email>jemeen.sreedharan@kcl.ac.uk</email></contrib></contrib-group><?date-created 20090423?><?date-updated 20230105?><?date-revised 20090528?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tardbp-als.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tardbp-als.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tardbp-als\" document-type=\"chapter\" object-id=\"tardbp-als.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tbrs\"><title>Tatton-Brown-Rahman Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">DNMT3A</italic> Overgrowth Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ostrowski</surname><given-names>Philip J</given-names></name><degrees>MD</degrees><aff>Specialist Registrar in Clinical Genetics, St George's University Hospitals NHS Foundation Trust;<break/>Great Ormond Street Hospital for Children NHS Foundation Trust<break/>London, United Kingdom</aff><email>phil.ostrowski@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tatton-Brown</surname><given-names>Katrina</given-names></name><degrees>MD</degrees><aff>Consultant Clinical Geneticist, St George's University Hospitals NHS Foundation Trust;<break/>Professor of Clinical Genetics and Genomic Medicine, St George's University of London<break/>London, United Kingdom</aff><email>k.tattonbrown@nhs.net</email></contrib></contrib-group><?date-created 20220630?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tbrs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbrs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbrs\" document-type=\"chapter\" object-id=\"tbrs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tbc1d24-dis\"><title><italic toggle=\"yes\">TBC1D24</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balestrini</surname><given-names>Simona</given-names></name><degrees>MD, PhD</degrees><email>simona.balestrini@meyer.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Campeau</surname><given-names>Philippe M</given-names></name><degrees>MD</degrees><email>p.campeau@umontreal.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mei</surname><given-names>Davide</given-names></name><degrees>MSc</degrees><email>davide.mei@meyer.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Guerrini</surname><given-names>Renzo</given-names></name><degrees>MD, FRCP</degrees><email>renzo.guerrini@meyer.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sisodiya</surname><given-names>Sanjay</given-names></name><degrees>MD, PhD, FRCP</degrees><email>s.sisodiya@ucl.ac.uk</email></contrib></contrib-group><?date-created 20150226?><?date-updated 20241024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tbc1d24-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbc1d24-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbc1d24-dis\" document-type=\"chapter\" object-id=\"tbc1d24-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tbck-ndd\"><title><italic toggle=\"yes\">TBCK</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF3), <italic toggle=\"yes\">TBCK</italic> Encephaloneuronopathy, TBCK Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ortiz-Gonzalez</surname><given-names>Xilma</given-names></name><degrees>MD, PhD</degrees><email>ortizgonzalez@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dubbs</surname><given-names>Holly</given-names></name><degrees>MS, LCGC</degrees><email>dubbsh@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Keller</surname><given-names>Kierstin</given-names></name><degrees>MS, LCGC</degrees><email>kellerk@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Durham</surname><given-names>Emily</given-names></name><degrees>PhD</degrees><email>durhame@chop.edu</email></contrib></contrib-group><?date-created 20250612?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tbck-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tbck-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tbck-ndd\" document-type=\"chapter\" object-id=\"tbck-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tcirg1-opt\"><title><italic toggle=\"yes\">TCIRG1</italic>-Related Osteopetrosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jodeh</surname><given-names>Wade</given-names></name><degrees>MD</degrees><email>wade.jodeh@utoledo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alam</surname><given-names>Imranul</given-names></name><degrees>PhD</degrees><email>ialam@iu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Econs</surname><given-names>Michael</given-names></name><degrees>MD</degrees><email>mecons@iu.edu</email></contrib></contrib-group><?date-created 20250828?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tcirg1-opt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcirg1-opt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcirg1-opt\" document-type=\"chapter\" object-id=\"tcirg1-opt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id\"><title><italic toggle=\"yes\">TECPR2</italic>-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability</title><subtitle content-type=\"alt-title\">Synonyms: Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9), Hereditary Spastic Paraplegia Type 49 (SPG49)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Heimer</surname><given-names>Gali</given-names></name><degrees>MD, PhD</degrees><email>galih.md@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Neuser</surname><given-names>Sonja</given-names></name><degrees>MD</degrees><email>sonja.neuser@medizin.uni-leipzig.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ben-Zeev</surname><given-names>Bruria</given-names></name><degrees>MD</degrees><email>bruria.benzeev@sheba.health.gov.il</email><email>bruria.benzeev@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ebrahimi-Fakhari</surname><given-names>Darius</given-names></name><degrees>MD, PhD</degrees><email>darius.ebrahimi-fakhari@childrens.harvard.edu</email></contrib></contrib-group><?date-created 20220922?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tecpr2-hsan-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tecpr2-hsan-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tecpr2-hsan-id\" document-type=\"chapter\" object-id=\"tecpr2-hsan-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vmcm\"><title><italic toggle=\"yes\">TEK</italic>-Related Venous Malformations</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Seront</surname><given-names>Emmanuel</given-names></name><degrees>MD, PhD</degrees><aff>Institut Roi Albert II<break/>Department of Medical Oncology<break/>Cliniques universitaires Saint-Luc<break/>Universit&#x000e9; catholique de Louvain<break/>Brussels, Belgium</aff><email>emmanuel.seront@saintluc.uclouvain.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boon</surname><given-names>Laurence M</given-names></name><degrees>MD, PhD</degrees><aff>Center for Vascular Anomalies<break/>Division of Plastic Surgery<break/>Cliniques universitaires Saint-Luc<break/>Universit&#x000e9; catholique de Louvain<break/>Brussels, Belgium</aff><email>laurence.boon@saintluc.uclouvain.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vikkula</surname><given-names>Miikka</given-names></name><degrees>MD, PhD</degrees><aff>Human Molecular Genetics<break/>de Duve Institute<break/>Universit&#x000e9; catholique de Louvain<break/>Brussels, Belgium</aff><email>miikka.vikkula@uclouvain.be</email></contrib></contrib-group><?date-created 20080918?><?date-updated 20230302?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vmcm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vmcm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vmcm\" document-type=\"chapter\" object-id=\"vmcm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_temple\"><title>Temple Syndrome</title><subtitle content-type=\"alt-title\">Synonym: TS14</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gazdagh</surname><given-names>Gabriella</given-names></name><degrees>MD, PGCert, FRCPCH</degrees><email>gabriella.gazdagh@uhs.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Juriaans</surname><given-names>Alicia</given-names></name><degrees>MD, PhD</degrees><email>a.f.juriaans@soton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kerkhof</surname><given-names>Gerthe</given-names></name><degrees>MD, PhD</degrees><email>g.kerkhof@erasmusmc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Davies</surname><given-names>Justin H</given-names></name><degrees>MBBCh, MRCP, FRCPCH, MD</degrees><email>justin.davies@uhs.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Temple</surname><given-names>Karen I</given-names></name><degrees>MB ChB, MD, FRCP</degrees><email>i.k.temple@soton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mackay</surname><given-names>Deborah JG</given-names></name><degrees>MA, PhD</degrees><email>d.j.g.mackay@soton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ogawa</surname><given-names>Tomoe</given-names></name><degrees>MD</degrees><email>yamaguchi-t@ncchd.go.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ogata</surname><given-names>Tsutomu</given-names></name><degrees>MD, PhD</degrees><email>tomogata@hama-med.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kagami</surname><given-names>Masayo</given-names></name><degrees>MD, PhD</degrees><email>kagami-ms@ncchd.go.jp</email></contrib></contrib-group><?date-created 20260402?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_temple.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_temple.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"temple\" document-type=\"chapter\" object-id=\"temple.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_beck-fahrner\"><title><italic toggle=\"yes\">TET3</italic>-Related Beck-Fahrner Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">TET3</italic>-BEFAHRS, TET3 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fahrner</surname><given-names>Jill A</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genetic Medicine<break/>Department of Pediatrics<break/>Johns Hopkins School of Medicine<break/>Baltimore, Maryland</aff><email>jfahrne1@jhmi.edu</email></contrib></contrib-group><?date-created 20230518?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_beck-fahrner.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_beck-fahrner.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"beck-fahrner\" document-type=\"chapter\" object-id=\"beck-fahrner.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tfr2\"><title><italic toggle=\"yes\">TFR2</italic>-Related Hemochromatosis</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Gobbi</surname><given-names>Marco</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Internal Medicine<break/>Department of Clinical and Biological Sciences<break/>University of Torino;<break/>Azienda Ospedaliera San Luigi<break/>Orbassano, Turin, Italy</aff><email>marco.degobbi@unito.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roetto</surname><given-names>Antonella</given-names></name><degrees>PhD</degrees><aff>Assistant Professor in Medical Genetics<break/>Department of Clinical and Biological Sciences<break/>University of Torino;<break/>Azienda Ospedaliera San Luigi<break/>Orbassano. Turin, Italy</aff><email>antonella.roetto@unito.it</email></contrib></contrib-group><?date-created 20050829?><?date-updated 20231207?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tfr2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tfr2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tfr2\" document-type=\"chapter\" object-id=\"tfr2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_td\"><title>Thanatophoric Dysplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>French</surname><given-names>Tegan</given-names></name><degrees>BMBS</degrees><aff>Victorian Clinical Genetics Services<break/>Murdoch Children's Research Institute<break/>Royal Children's Hospital<break/>Melbourne, Australia</aff><email>tegan.french@vcgs.org.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><aff>Victorian Clinical Genetics Services<break/>Murdoch Children's Research Institute<break/>Royal Children's Hospital;<break/>University of Melbourne<break/>Melbourne, Australia</aff><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20040521?><?date-updated 20200618?><?date-revised 20230518?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_td.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_td.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"td\" document-type=\"chapter\" object-id=\"td.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_trma\"><title>Thiamine-Responsive Megaloblastic Anemia Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Rogers Syndrome, TRMA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sako</surname><given-names>Shuhei</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tsunogai</surname><given-names>Toshiki</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oishi</surname><given-names>Kimihiko</given-names></name><degrees>MD</degrees><email>kimihiko.oishi@jikei.ac.jp</email></contrib></contrib-group><?date-created 20031024?><?date-updated 20220728?><?date-revised 20071119?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_trma.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trma.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trma\" document-type=\"chapter\" object-id=\"trma.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_thoc6-id\"><title><italic toggle=\"yes\">THOC6</italic> Intellectual Disability Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Beaulieu-Boycott-Innes Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemire</surname><given-names>Gabrielle</given-names></name><degrees>MD, FRCPC</degrees><aff>Children's Hospital of Eastern Ontario Research Institute<break/>University of Ottawa<break/>Ottawa, Canada</aff><email>glemire@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Innes</surname><given-names>A Micheil</given-names></name><degrees>MD, FRCPC</degrees><aff>Department of Medical Genetics<break/>Alberta Children's Hospital Research Institute<break/>University of Calgary<break/>Calgary, Canada</aff><email>micheil.innes@albertahealthservices.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boycott</surname><given-names>Kym M</given-names></name><degrees>MD, PhD, FRCPC</degrees><aff>Department of Genetics<break/>Children's Hospital of Eastern Ontario<break/>University of Ottawa<break/>Ottawa, Canada</aff><email>kboycott@cheo.on.ca</email></contrib></contrib-group><?date-created 20200813?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_thoc6-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thoc6-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thoc6-id\" document-type=\"chapter\" object-id=\"thoc6-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tar\"><title>Thrombocytopenia Absent Radius Syndrome</title><subtitle content-type=\"alt-title\">Synonym: TAR Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Petit</surname><given-names>Florence</given-names></name><degrees>MD, PhD</degrees><email>florence.petit@chu-lille.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boussion</surname><given-names>Simon</given-names></name><degrees>MD</degrees><email>simon.boussion@chu-lille.fr</email></contrib></contrib-group><?date-created 20091208?><?date-updated 20220825?><?date-revised 20231102?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tar.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tar.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tar\" document-type=\"chapter\" object-id=\"tar.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tk2-mtddepl\"><title><italic toggle=\"yes\">TK2</italic>-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</title><subtitle content-type=\"alt-title\">Synonyms: Mitochondrial DNA Depletion Syndrome 2 (MTDPS2), Myopathic Type; TK2 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Julia</given-names></name><degrees>BS</degrees><email>julia.wang@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wong</surname><given-names>Lee-Jun C</given-names></name><degrees>PhD, FACMG</degrees><email>ljwong@bcm.edu</email></contrib></contrib-group><?date-created 20121206?><?date-updated 20180726?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tk2-mtddepl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tk2-mtddepl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tk2-mtddepl\" document-type=\"chapter\" object-id=\"tk2-mtddepl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_traps\"><title>TNF Receptor-Associated Periodic Fever Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: TNF Receptor-Associated Periodic Syndrome (TRAPS), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deuitch</surname><given-names>Natalie</given-names></name><degrees>MS, CGC</degrees><email>natalie.deuitch@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cudrici</surname><given-names>Cornelia</given-names></name><degrees>MD</degrees><email>cornelia.cudrici@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ombrello</surname><given-names>Amanda</given-names></name><degrees>MD</degrees><email>amanda.ombrello@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Aksentijevich</surname><given-names>Ivona</given-names></name><degrees>MD, FACMG</degrees><email>aksentii@mail.nih.gov</email></contrib></contrib-group><?date-created 20221110?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_traps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_traps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"traps\" document-type=\"chapter\" object-id=\"traps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tnxb-eds\"><title><italic toggle=\"yes\">TNXB</italic>-Related Classical-Like Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Classical-Like Ehlers-Danlos syndrome (clEDS) Type 1, <italic toggle=\"yes\">TNXB</italic>-Related clEDS, <italic toggle=\"yes\">TNXB</italic>-Related Classic-Like Ehlers-Danlos Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Dijk</surname><given-names>Fleur S</given-names></name><degrees>MD, PhD</degrees><email>fleur.dijk@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ghali</surname><given-names>Neeti</given-names></name><degrees>MBChB, MD</degrees><email>neeti.ghali@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Demirdas</surname><given-names>Serwet</given-names></name><degrees>MD, PhD</degrees><email>s.demirdas@erasmusmc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baker</surname><given-names>Duncan</given-names></name><degrees>MSc</degrees></contrib></contrib-group><?date-created 20220915?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tnxb-eds.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tnxb-eds.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tnxb-eds\" document-type=\"chapter\" object-id=\"tnxb-eds.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_aec\"><title><italic toggle=\"yes\">TP63</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sutton</surname><given-names>V Reid</given-names></name><degrees>MD</degrees><aff>Professor, Department of Molecular and Human Genetics\nBaylor College of Medicine;\nTexas Children's Hospital\nHouston, Texas</aff><email>vrsutton@texaschildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Bokhoven</surname><given-names>Hans</given-names></name><degrees>PhD</degrees><aff>Professor, Molecular Neurogenetics\nDepartment of Human Genetics\nRadboud University Medical Center\nNijmegen, the Netherlands</aff><email>hans.vanbokhoven@radboudumc.nl</email></contrib></contrib-group><?date-created 20100608?><?date-updated 20210401?><?date-revised 20191205?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_aec.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_aec.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"aec\" document-type=\"chapter\" object-id=\"aec.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tpk1-def\"><title><italic toggle=\"yes\">TPK1</italic>-Related Thiamine Metabolism Dysfunction Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Thiamine Metabolism Dysfunction Syndrome 5 (TMDS5), Thiamine Pyrophosphokinase Deficiency, TPK1 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mascarenhas</surname><given-names>Selinda</given-names></name><degrees>MSc</degrees><email>mascarenhasselinda@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Paul</surname><given-names>Maimuna Sali</given-names></name><degrees>PhD</degrees><email>maimuna.paul@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bhat</surname><given-names>Vivekananda</given-names></name><degrees>DNB, DM</degrees><email>bhat.vivekananda@manipal.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Shukla</surname><given-names>Anju</given-names></name><degrees>MD, DM</degrees><email>anju.shukla@manipal.edu</email></contrib></contrib-group><?date-created 20260623?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tpk1-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tpk1-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tpk1-def\" document-type=\"chapter\" object-id=\"tpk1-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tcs\"><title>Treacher Collins Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Mandibulofacial Dysostosis, Treacher Collins-Franceschetti Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barbosa</surname><given-names>Mafalda</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Department of Genetics and Genomic Sciences<break/>Icahn School of Medicine at Mount Sinai<break/>New York, New York</aff><email>mafalda.barbosa@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Jabs</surname><given-names>Ethylin Wang</given-names></name><degrees>MD</degrees><aff>Department of Clinical Genomics<break/>Mayo Clinic, Rochester, Minnesota</aff><email>jabs.ethylin@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Huston</surname><given-names>Sara</given-names></name><degrees>MS</degrees><aff>Department of Pediatrics<break/>Feinberg School of Medicine<break/>Northwestern University;<break/>Lurie Children&#x02019;s Hospital<break/>Chicago, Illinois</aff><email>shuston@luriechildrens.org</email></contrib></contrib-group><?date-created 20040720?><?date-updated 20240620?><?date-revised 20200820?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tcs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tcs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tcs\" document-type=\"chapter\" object-id=\"tcs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sd-thes\"><title>Trichohepatoenteric Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: Phenotypic Diarrhea of Infancy, Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome (SD/THE), THES</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fabre</surname><given-names>Alexandre</given-names></name><degrees>MD, PhD</degrees><email>alexandre.fabre@ap-hm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bourgeois</surname><given-names>Patrice</given-names></name><degrees>PhD</degrees><email>patrice.bourgeois@ap-hm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chaix</surname><given-names>Charl&#x000e8;ne</given-names></name><email>charlene.chaix@ap-hm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bertaux</surname><given-names>Karine</given-names></name><degrees>PhD</degrees><email>karine.bertaux@ap-hm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Goulet</surname><given-names>Olivier</given-names></name><degrees>MD, PhD</degrees><email>olivier.goulet@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Badens</surname><given-names>Catherine</given-names></name><degrees>PharmD, PhD</degrees><email>catherine.badens@ap-hm.fr</email></contrib></contrib-group><?date-created 20180111?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sd-thes.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sd-thes.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sd-thes\" document-type=\"chapter\" object-id=\"sd-thes.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tps\"><title>Trichorhinophalangeal Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Tricho-Rhino-Phalangeal Syndrome (TRPS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>T&#x000fc;ys&#x000fc;z</surname><given-names>Beyhan</given-names></name><degrees>MD, PhD</degrees><email>beyhan@istanbul.edu.tr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>G&#x000fc;ne&#x0015f;</surname><given-names>Nilay</given-names></name><degrees>MD</degrees><email>nilay.gunes@istanbul.edu.tr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Alkaya</surname><given-names>Dilek Uluda&#x0011f;</given-names></name><degrees>MD, PhD</degrees><email>duludagalkaya@istanbul.edu.tr</email></contrib></contrib-group><?date-created 20170420?><?date-updated 20240321?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tps.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tps.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tps\" document-type=\"chapter\" object-id=\"tps.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_trio-id\"><title><italic toggle=\"yes\">TRIO</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Varvagiannis</surname><given-names>Konstantinos</given-names></name><degrees>MD</degrees><email>konstantinosv@cing.ac.cy</email><email>knsvarv@ath.forthnet.gr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vissers</surname><given-names>Lisenka ELM</given-names></name><degrees>PhD</degrees><email>lisenka.vissers@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baralle</surname><given-names>Diana</given-names></name><degrees>BSc, MBBS, MD, FRCP</degrees><email>d.baralle@soton.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gazdagh</surname><given-names>Gabriella</given-names></name><degrees>MD, MRCPCH</degrees><email>gabriella.gazdagh@uhs.nhs.uk</email></contrib></contrib-group><?date-created 20170810?><?date-updated 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_trio-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trio-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trio-id\" document-type=\"chapter\" object-id=\"trio-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_trmu-def\"><title>TRMU Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">TRMU</italic>-Related Reversible Infantile Respiratory Chain Deficiency, <italic toggle=\"yes\">TRMU</italic>-Related Mitochondrial Hepatopathy, <italic toggle=\"yes\">TRMU</italic>-Related Reversible Infantile Liver Failure</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Reinhart</surname><given-names>Michaela</given-names></name><degrees>MD</degrees><email>reinhartmb@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Muraresku</surname><given-names>Colleen</given-names></name><degrees>MS, LCGC</degrees><email>clarkec@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ganetzky</surname><given-names>Rebecca</given-names></name><degrees>MD</degrees><email>ganetzkyr@chop.edu</email></contrib></contrib-group><?date-created 20230511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_trmu-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trmu-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trmu-def\" document-type=\"chapter\" object-id=\"trmu-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_spg20\"><title>Troyer Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">SPART</italic>-Related Hereditary Spastic Paraplegia (<italic toggle=\"yes\">SPART</italic>-HSP); SPG20</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baple</surname><given-names>Emma</given-names></name><degrees>MBBS, MRCPCH, PhD</degrees><email>e.baple@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Day</surname><given-names>Jacob</given-names></name><degrees>MRCP, BM BCh, BA</degrees><email>J.Day8@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Newman</surname><given-names>Allison</given-names></name><degrees>MSci</degrees><email>an545@exeter.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Crosby</surname><given-names>Andrew</given-names></name><degrees>PhD</degrees><email>a.h.crosby@exeter.ac.uk</email></contrib></contrib-group><?date-created 20041116?><?date-updated 20250814?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_spg20.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_spg20.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"spg20\" document-type=\"chapter\" object-id=\"spg20.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_trpm3-ndd\"><title><italic toggle=\"yes\">TRPM3</italic>-Related Neurodevelopmental Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dyment</surname><given-names>David</given-names></name><degrees>DPhil, MD, FRCPC</degrees><email>ddyment@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lines</surname><given-names>Matthew</given-names></name><degrees>MSc, MD, FRCPC</degrees><email>matthew.lines@albertahealthservices.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Innes</surname><given-names>A Micheil</given-names></name><degrees>MD, FRCPC</degrees><email>micheil.innes@albertahealthservices.ca</email></contrib></contrib-group><?date-created 20230223?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_trpm3-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_trpm3-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"trpm3-ndd\" document-type=\"chapter\" object-id=\"trpm3-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pc-hypo-p\"><title><italic toggle=\"yes\">TSEN54</italic> Pontocerebellar Hypoplasia</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Dijk</surname><given-names>Tessa</given-names></name><degrees>MD</degrees><email>t.van_dijk@lumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Baas</surname><given-names>Frank</given-names></name><degrees>MD, PhD</degrees><email>f.baas@lumc.nl</email></contrib></contrib-group><?date-created 20090908?><?date-updated 20200528?><?date-revised 20160714?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pc-hypo-p.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pc-hypo-p.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pc-hypo-p\" document-type=\"chapter\" object-id=\"pc-hypo-p.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tubb4a-leuk\"><title><italic toggle=\"yes\">TUBB4A</italic>-Related Neurologic Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gavazzi</surname><given-names>Francesco</given-names></name><degrees>MD, PhD</degrees><email>gavazzif@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pizzino</surname><given-names>Amy</given-names></name><degrees>MS</degrees><email>pizzinoa@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bally</surname><given-names>Julien F</given-names></name><degrees>MD</degrees><email>julien.bally@chuv.ch</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fraser</surname><given-names>Jamie</given-names></name><degrees>MD, PhD</degrees><email>jfraser@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Simons</surname><given-names>Cas</given-names></name><degrees>PhD</degrees><email>c.simons@imb.uq.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wolf</surname><given-names>Nicole I</given-names></name><degrees>MD, PhD</degrees><email>n.wolf@amsterdamumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van der Knaap</surname><given-names>Marjo</given-names></name><degrees>MD, PhD</degrees><email>ms.vanderknaap@vumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vanderver</surname><given-names>Adeline</given-names></name><degrees>MD</degrees><email>vandervera@email.chop.edu</email></contrib></contrib-group><?date-created 20161103?><?date-updated 20260305?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tubb4a-leuk.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubb4a-leuk.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubb4a-leuk\" document-type=\"chapter\" object-id=\"tubb4a-leuk.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tuberous-sclerosis\"><title>Tuberous Sclerosis Complex</title><subtitle content-type=\"alt-title\">Synonym: Bourneville Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Northrup</surname><given-names>Hope</given-names></name><degrees>MD, FACMG</degrees><email>hope.northrup@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koenig</surname><given-names>Mary Kay</given-names></name><degrees>MD</degrees><email>mary.k.koenig@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Pearson</surname><given-names>Deborah A</given-names></name><degrees>PhD</degrees><email>deborah.a.pearson@uth.tmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Au</surname><given-names>Kit Sing</given-names></name><degrees>PhD</degrees><email>kit-sing.au@uth.tmc.edu</email></contrib></contrib-group><?date-created 19990713?><?date-updated 20240801?><?date-revised 20211209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tuberous-sclerosis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Clinical_Characterist\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Clinical_Characterist\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Genetically_Related_A\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Genetically_Related_A\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Differential_Diagnosi\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Differential_Diagnosi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tuberous-sclerosis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tuberous-sclerosis\" document-type=\"chapter\" object-id=\"tuberous-sclerosis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tubulin-ov\"><title>Tubulinopathies Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bahi-Buisson</surname><given-names>Nadia</given-names></name><degrees>MD, PhD</degrees><email>nadia.bahi-buisson@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Maillard</surname><given-names>Camille</given-names></name><degrees>PhD</degrees></contrib></contrib-group><?date-created 20160324?><?date-updated 20210916?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tubulin-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Clinical_Characteristics_of_T\"><title> Clinical Characteristics of Tubulinopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Clinical_Characteristics_of_T\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Genetic_Causes_of_Tubulinopat\"><title> Genetic Causes of Tubulinopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Genetic_Causes_of_Tubulinopat\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Differential_Diagnosis_of_Tub\"><title> Differential Diagnosis of Tubulinopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Differential_Diagnosis_of_Tub\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Evaluation_Strategies_to_Iden\"><title> Evaluation Strategies to Identify the Genetic Cause of Tubulinopathy in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Evaluation_Strategies_to_Iden\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.General_Medical_Management_of\"><title> General Medical Management of Tubulinopathies</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.General_Medical_Management_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Genetic_Counseling_of_Family\"><title> Genetic Counseling of Family Members of an Individual with a Tubulinopathy</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Genetic_Counseling_of_Family\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tubulin-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tubulin-ov\" document-type=\"chapter\" object-id=\"tubulin-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_burn-mckeown\"><title><italic toggle=\"yes\">TXNL4A</italic>-Related Craniofacial Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>L&#x000fc;decke</surname><given-names>Hermann-Josef</given-names></name><degrees>PhD</degrees><email>hermann-josef.luedecke@uni-duesseldorf.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wieczorek</surname><given-names>Dagmar</given-names></name><degrees>MD</degrees><email>dagmar.wieczorek@uni-duesseldorf.de</email><email>dagmar.wieczorek@hhu.de</email></contrib></contrib-group><?date-created 20160714?><?date-updated 20220512?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_burn-mckeown.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_burn-mckeown.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"burn-mckeown\" document-type=\"chapter\" object-id=\"burn-mckeown.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_collagen-2\"><title>Type II Collagen Disorders Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gregersen</surname><given-names>Pernille Ax&#x000e9;l</given-names></name><degrees>MD, PhD</degrees><aff>Department of Clinical Genetics;<break/>Centre for Rare Diseases;<break/>Pediatrics and Adolescent Medicine<break/>Aarhus University Hospital<break/>Aarhus, Denmark</aff><email>perngreg@rm.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Savarirayan</surname><given-names>Ravi</given-names></name><degrees>MBBS, MD, FRACP, ARCPA (Hon)</degrees><aff>Victorian Clinical Genetics Service;<break/>Murdoch Children's Research Institute;<break/>University of Melbourne, Parkville<break/>Melbourne, Australia</aff><email>ravi.savarirayan@vcgs.org.au</email></contrib></contrib-group><?date-created 20190425?><?date-updated 20241024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_collagen-2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Clinical_Characteristics_of_T\"><title> Clinical Characteristics of Type II Collagen Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Clinical_Characteristics_of_T\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Evaluation_Strategies_to_Iden\"><title> Evaluation Strategies to Identify the Genetic Cause of a Type II Collagen Disorder in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Evaluation_Strategies_to_Iden\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Differential_Diagnosis_of_Typ\"><title> Differential Diagnosis of Type II Collagen Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Differential_Diagnosis_of_Typ\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_collagen-2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"collagen-2\" document-type=\"chapter\" object-id=\"collagen-2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_thdrd\"><title>Tyrosine Hydroxylase Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Furukawa</surname><given-names>Yoshiaki</given-names></name><degrees>MD, PhD</degrees><aff>Vice-President, Juntendo Tokyo Koto Geriatric Medical Center<break/>Professor, Department of Neurology, Juntendo University Graduate School of Medicine<break/>Tokyo, Japan</aff><email>furukawa@juntendo.gmc.ac.jp</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kish</surname><given-names>Stephen</given-names></name><degrees>PhD</degrees><aff>Professor, Departments of Psychiatry and Pharmacology<break/>University of Toronto<break/>Head, Human Brain Laboratory<break/>Research Imaging Centre<break/>Centre for Addiction and Mental Health<break/>Toronto, Ontario, Canada</aff><email>stephen.kish@camh.ca</email></contrib></contrib-group><?date-created 20080208?><?date-updated 20170511?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_thdrd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_thdrd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"thdrd\" document-type=\"chapter\" object-id=\"thdrd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tyrosinemia-2\"><title>Tyrosinemia Type II</title><subtitle content-type=\"alt-title\">Synonyms: Oculocutaneous Tyrosinemia, Richner-Hanhart Syndrome, TAT Deficiency, Tyrosine Aminotransferase Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bayzaei</surname><given-names>Zahra</given-names></name><degrees>PhD</degrees><email>z.beyzaei@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dehghani</surname><given-names>Seyed Mohsen</given-names></name><degrees>MD, MPH</degrees><email>dehghanism@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Geramizadeh</surname><given-names>Bita</given-names></name><degrees>MD, APCP</degrees><email>geramib@gmail.com</email></contrib></contrib-group><?date-created 20241024?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tyrosinemia-2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia-2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia-2\" document-type=\"chapter\" object-id=\"tyrosinemia-2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_tyrosinemia\"><title>Tyrosinemia Type I</title><subtitle content-type=\"alt-title\">Synonyms: FAH Deficiency, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency, Hepatorenal Tyrosinemia Type 1 (HT-1)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ficicioglu</surname><given-names>Can</given-names></name><degrees>MD, PhD</degrees><aff>The Children's Hospital of Philadelphia;<break/>Division of Human Genetics and Metabolism<break/>Perelman School of Medicine at the University of Pennsylvania<break/>Philadelphia, Pennsylvania</aff><email>ficicioglu@chop.edu</email></contrib></contrib-group><?date-created 20060724?><?date-updated 20251120?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_tyrosinemia.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_tyrosinemia.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"tyrosinemia\" document-type=\"chapter\" object-id=\"tyrosinemia.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-U?><toc-entry id=\"toc_udd\"><title>Udd Distal Myopathy &#x02013; Tibial Muscular Dystrophy</title><subtitle content-type=\"alt-title\">Synonym: Udd Myopathy</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Udd</surname><given-names>Bjarne</given-names></name><degrees>MD, PhD, Prof</degrees><email>bjarne.udd@netikka.fi</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hackman</surname><given-names>Peter</given-names></name><degrees>PhD, Doc</degrees><email>peter.hackman@helsinki.fi</email></contrib></contrib-group><?date-created 20050217?><?date-updated 20200102?><?date-revised 20130808?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_udd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_udd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"udd\" document-type=\"chapter\" object-id=\"udd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_unc80-def\"><title>UNC80 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bramswig</surname><given-names>Nuria C</given-names></name><degrees>MD</degrees><aff>Centre of Medical Genetics<break/>Department of Medical Genetics<break/>University of M&#x000fc;nster and University Hospital M&#x000fc;nster<break/>M&#x000fc;nster, Germany</aff><email>nuria.braemswig@ukmuenster.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zaki</surname><given-names>Maha S</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Clinical Genetics<break/>National Research Centre<break/>Cairo, Egypt</aff><email>dr_mahazaki@yahoo.com</email><email>dr.mahazaki@nrc.nci.eg</email></contrib></contrib-group><?date-created 20170921?><?date-updated 20230518?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_unc80-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_unc80-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"unc80-def\" document-type=\"chapter\" object-id=\"unc80-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_hsp\"><title>Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview</title><subtitle content-type=\"alt-title\">Synonyms: Strumpell-Lorrain Syndrome, Uncomplicated Hereditary Spastic Paraparesis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hedera</surname><given-names>Peter</given-names></name><degrees>MD, PhD, FACMG</degrees><aff>Department of Neurology<break/>University of Louisville<break/>Louisville, Kentucky</aff><email>peter.hedera@louisville.edu</email></contrib></contrib-group><?date-created 20000815?><?date-updated 20250605?><?date-revised 20210211?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_hsp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Clinical_Characteristics_of_Uncompli\"><title> Clinical Characteristics of Uncomplicated Hereditary Spastic Paraplegia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Clinical_Characteristics_of_Uncompli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Causes_of_Uncomplicated_Hereditary_S\"><title> Causes of Uncomplicated Hereditary Spastic Paraplegia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Causes_of_Uncomplicated_Hereditary_S\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Differential_Diagnosis_of_Uncomplica\"><title> Differential Diagnosis of Uncomplicated Hereditary Spastic Paraplegia</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Differential_Diagnosis_of_Uncomplica\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Evaluation_Strategies_to_Identify_th\"><title> Evaluation Strategies to Identify the Genetic Cause of Uncomplicated Hereditary Spastic Paraplegia in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Evaluation_Strategies_to_Identify_th\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_hsp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"hsp\" document-type=\"chapter\" object-id=\"hsp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_ucd-overview\"><title>Urea Cycle Disorders Overview</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Simpson</surname><given-names>Kara L</given-names></name><degrees>MS, CGC</degrees><email>ksimpson@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacLeod</surname><given-names>Erin L</given-names></name><degrees>PhD, RD</degrees><email>emacleod@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kakajiwala</surname><given-names>Aadil</given-names></name><degrees>MD</degrees><email>akakajiwal@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gropman</surname><given-names>Andrea L</given-names></name><degrees>MD</degrees><email>mailto:agropman@childrensnational.organdrea.gropman@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ah Mew</surname><given-names>Nicholas</given-names></name><degrees>MD</degrees><email>nahmew@childrensnational.org</email></contrib></contrib-group><?date-created 20030429?><?date-updated 20250703?><?date-revised 20150409?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ucd-overview.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Clinical_Characteristics_of\"><title> Clinical Characteristics of Urea Cycle Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Clinical_Characteristics_of\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Genetic_Causes_of_Urea_Cycl\"><title> Genetic Causes of Urea Cycle Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Genetic_Causes_of_Urea_Cycl\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Differential_Diagnosis_of_U\"><title> Differential Diagnosis of Urea Cycle Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Differential_Diagnosis_of_U\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Evaluation_Strategies_to_Id\"><title> Evaluation Strategies to Identify the Genetic Cause of a Urea Cycle Disorder in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Evaluation_Strategies_to_Id\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ucd-overview.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ucd-overview\" document-type=\"chapter\" object-id=\"ucd-overview.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_urofacial\"><title>Urofacial Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Ochoa Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Newman</surname><given-names>William G</given-names></name><degrees>MA, PhD, FRCP</degrees><email>william.newman@manchester.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Woolf</surname><given-names>Adrian S</given-names></name><degrees>MA, MD</degrees><email>adrian.woolf@manchester.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Beaman</surname><given-names><?break?>Glenda M</given-names></name><degrees>PhD</degrees><email>glenda.beaman@manchester.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Roberts</surname><given-names>Neil A</given-names></name><degrees>PhD</degrees><email>neil.roberts-2@manchester.ac.uk</email></contrib></contrib-group><?date-created 20130822?><?date-updated 20230928?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_urofacial.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_urofacial.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"urofacial\" document-type=\"chapter\" object-id=\"urofacial.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_usher2\"><title>Usher Syndrome Type II</title><subtitle content-type=\"alt-title\">Synonym: USH2</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koenekoop</surname><given-names>Robert</given-names></name><degrees>MD, PhD, FARVO</degrees><aff>Pediatric Surgery, Human Genetics and Adult Ophthalmology<break/>McGill University Health Center<break/>Montreal, Quebec, Canada</aff><email>robert.koenekoop@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arriaga</surname><given-names>Moises</given-names></name><degrees>MD, MBA, FACS</degrees><aff>Otolaryngology and Neurosurgery<break/>Louisiana State University Health Sciences Center<break/>New Orleans, Louisiana</aff><email>maa@neurotologic.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trzupek</surname><given-names>Karmen M</given-names></name><degrees>MS, CGC</degrees><aff>Ocular &#x00026; Rare Disease Genetics Services<break/>Informed DNA<break/>St Petersburg, Florida</aff><email>ktrzupek@informeddna.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lentz</surname><given-names>Jennifer</given-names></name><degrees>PhD</degrees><aff>Neuroscience Center of Excellence<break/>Louisiana State University Health<break/>Sciences Center<break/>New Orleans, Louisiana</aff><email>jlentz@lsuhsc.edu</email></contrib></contrib-group><?date-created 19991210?><?date-updated 20201022?><?date-revised 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_usher2.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher2.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher2\" document-type=\"chapter\" object-id=\"usher2.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_usher1\"><title>Usher Syndrome Type I</title><subtitle content-type=\"alt-title\">Synonyms: Usher Syndrome Type 1, USH1, USH Type 1</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Koenekoop</surname><given-names>Robert K</given-names></name><degrees>MD, PhD, FACS</degrees><aff>Pediatric Surgery, Human Genetics, and Adult Ophthalmology<break/>McGill University Health Center<break/>Montreal, Quebec, Canada</aff><email>robert.koenekoop@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Arriaga</surname><given-names>Moises A</given-names></name><degrees>MD, MBA, FACS</degrees><aff>Otolaryngology and Neurosurgery<break/>Louisiana State University Health Sciences Center<break/>New Orleans, Louisiana</aff><email>maa@neurotologic.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gillies</surname><given-names>Nicky</given-names></name><degrees>MS</degrees><aff>Human Development Center<break/>Louisiana State University Health Sciences Center<break/>New Orleans, Louisiana</aff><email>ngilli@lsuhsc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trzupek</surname><given-names>Karmen M</given-names></name><degrees>MS, CGC</degrees><aff>Ocular &#x00026; Rare Disease Genetics Services<break/>InformedDNA<break/>St Petersburg, Florida</aff><email>ktrzupek@informeddna.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lentz</surname><given-names>Jennifer J</given-names></name><degrees>PhD</degrees><aff>Neuroscience Center of Excellence<break/>Louisiana State University Health Sciences Center<break/>New Orleans, Louisiana</aff><email>jlentz@lsuhsc.edu</email></contrib></contrib-group><?date-created 19991210?><?date-updated 20260609?><?date-revised 20201008?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_usher1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usher1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usher1\" document-type=\"chapter\" object-id=\"usher1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_usp7-ndd\"><title><italic toggle=\"yes\">USP7</italic>-Related Hao-Fountain Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">USP7</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaaf</surname><given-names>Christian</given-names></name><degrees>MD, PhD</degrees><aff>Medical Director and Chairman, Institute of Human Genetics<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>christian.schaaf@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sailer</surname><given-names>Sebastian</given-names></name><degrees>MD</degrees><aff>Institute of Human Genetics<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>sebastian.sailer@med.uni-heidelberg.de</email></contrib></contrib-group><?date-created 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_usp7-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_usp7-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"usp7-ndd\" document-type=\"chapter\" object-id=\"usp7-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-V?><toc-entry id=\"toc_porphyria-var\"><title>Variegate Porphyria</title><subtitle content-type=\"alt-title\">Synonym: Porphyria Variegata</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Singal</surname><given-names>Ashwani K</given-names></name><degrees>MD, MSc</degrees><aff>University of South Dakota Sanford School of Medicine\nSioux Falls, South Dakota</aff><email>aksingal@uab.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Anderson</surname><given-names>Karl E</given-names></name><degrees>MD</degrees><aff>University of Texas Medical Branch\nGalveston, Texas</aff><email>kanderso@utmb.edu</email></contrib></contrib-group><?date-created 20130214?><?date-updated 20191212?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_porphyria-var.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_porphyria-var.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"porphyria-var\" document-type=\"chapter\" object-id=\"porphyria-var.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_eds4\"><title>Vascular Ehlers-Danlos Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: EDS Type IV; Ehlers-Danlos Syndrome, Vascular Type; vEDS</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Byers</surname><given-names>Peter H</given-names></name><degrees>MD</degrees><aff>Department of Laboratory Medicine and Pathology;<break/>Department of Medicine, Division of Medical Genetics<break/>University of Washington<break/>Seattle, Washington</aff><email>pbyers@uw.edu</email></contrib></contrib-group><?date-created 19990902?><?date-updated 20250410?><?date-revised 20050125?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_eds4.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_eds4.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"eds4\" document-type=\"chapter\" object-id=\"eds4.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wagner\"><title><italic toggle=\"yes\">VCAN</italic>-Related Vitreoretinopathy</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rothschild</surname><given-names><?break?>Pierre-Raphael</given-names></name><degrees>MD, PhD</degrees><aff>Institut Parisien d&#x02019;ophjtalmologie et Groupe Pauchet<break/>Paris, France</aff><email>pierreraphaelrothschild@hotmail.com</email></contrib></contrib-group><?date-created 20090203?><?date-updated 20260519?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wagner.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagner.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagner\" document-type=\"chapter\" object-id=\"wagner.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vlcad\"><title>Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Leslie</surname><given-names>Nancy D</given-names></name><degrees>MD</degrees><aff>Professor of Clinical Pediatrics<break/>Division of Human Genetics<break/>Cincinnati Children's Hospital Medical Center<break/>Cincinnati, Ohio</aff><email>nancy.leslie@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Saenz-Ayala</surname><given-names>Sofia</given-names></name><degrees>MD</degrees><aff>Cincinnati Children's Hospital Medical Center<break/>Cincinnati, Ohio</aff></contrib></contrib-group><?date-created 20090528?><?date-updated 20220616?><?date-revised 20250807?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vlcad.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vlcad.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vlcad\" document-type=\"chapter\" object-id=\"vlcad.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vexas\"><title>VEXAS Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hadjadj</surname><given-names>Jerome</given-names></name><degrees>MD, PhD</degrees><email>jerome.hadjadj@nyulangone.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Beck</surname><given-names>David</given-names></name><degrees>MD, PhD</degrees><email>david.beck@nyulangone.org</email></contrib></contrib-group><?date-created 20250515?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vexas.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vexas.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vexas\" document-type=\"chapter\" object-id=\"vexas.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vldlr-ch\"><title><italic toggle=\"yes\">VLDLR</italic> Cerebellar Hypoplasia</title><subtitle content-type=\"alt-title\">Synonym: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Boycott</surname><given-names>Kym M</given-names></name><degrees>PhD, MD</degrees><aff>Department of Genetics<break/>Children's Hospital of Eastern Ontario<break/>Professor of Pediatrics<break/>University of Ottawa<break/>Ottawa, Ontario, Canada</aff><email>kboycott@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Stella K</given-names></name><degrees>BSc</degrees><aff>Clinical Research Associate, Department of Genetics<break/>Children's Hospital of Eastern Ontario<break/>Ottawa, Ontario, Canada</aff><email>smacdonald@cheo.on.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Parboosingh</surname><given-names>Jillian S</given-names></name><degrees>PhD</degrees><aff>Molecular Diagnostic Laboratory<break/>Alberta Children's Hospital<break/>Associate Professor of Medical Genetics<break/>University of Calgary<break/>Calgary, Alberta, Canada</aff><email>jillian.parboosingh@albertaprecisionlabs.ca</email></contrib></contrib-group><?date-created 20080826?><?date-updated 20200227?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vldlr-ch.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vldlr-ch.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vldlr-ch\" document-type=\"chapter\" object-id=\"vldlr-ch.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vhl\"><title>Von Hippel-Lindau Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: VHL Disease, VHL Syndrome, Von Hippel-Lindau Disease</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Leeuwaarde</surname><given-names>Rachel S</given-names></name><degrees>MD, PhD</degrees><email>r.vanLeeuwaarde@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahmad</surname><given-names>Saya</given-names></name><degrees>BSc</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>van Nesselrooij</surname><given-names>Bernadette</given-names></name><degrees>MD, PhD</degrees><email>b.p.m.vannesselrooij@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zandee</surname><given-names>Wouter</given-names></name><degrees>MD, PhD</degrees><email>w.zandee@umcg.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Giles</surname><given-names>Rachel H</given-names></name><degrees>PhD</degrees><email>rachelhelengiles@gmail.com</email></contrib></contrib-group><?date-created 20000517?><?date-updated 20230921?><?date-revised 20250501?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vhl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vhl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vhl\" document-type=\"chapter\" object-id=\"vhl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_von-willebrand\"><title>Von Willebrand Disease</title><subtitle content-type=\"alt-title\">Synonym: Von Willebrand Factor Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Johnsen</surname><given-names>Jill</given-names></name><degrees>MD</degrees><aff>Division of Hematology and Oncology, Department of Medicine;<break/>Institute for Stem Cell &#x00026; Regenerative Medicine;<break/>Center for Cardiovascular Biology<break/>University of Washington<break/>Seattle, Washington</aff><email>jjohnsen@uw.edu</email></contrib></contrib-group><?date-created 20090604?><?date-updated 20241114?><?date-revised 20101026?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_von-willebrand.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Genetically_Related_Allel\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Genetically_Related_Allel\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_von-willebrand.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"von-willebrand\" document-type=\"chapter\" object-id=\"von-willebrand.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_chac\"><title><italic toggle=\"yes\">VPS13A</italic> Disease</title><subtitle content-type=\"alt-title\">Synonyms: Chorea-Acanthocytosis (ChAc), Choreoacanthocytosis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Peikert</surname><given-names><?break?>Kevin</given-names></name><degrees>MD</degrees><email>kevin.peikert@med.uni-rostock.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dobson-Stone</surname><given-names>Carol</given-names></name><degrees>DPhil</degrees><email>carol.dobson-stone@sydney.edu.au</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rampoldi</surname><given-names>Luca</given-names></name><degrees>PhD</degrees><email>rampoldi.luca@hsr.it</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Miltenberger-Miltenyi</surname><given-names>Gabriel</given-names></name><degrees>MD</degrees><email>gmiltenyi@medicina.ulisboa.pt</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Neiman</surname><given-names>Aaron</given-names></name><degrees>PhD</degrees><email>aaron.neiman@stonybrook.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>De Camilli</surname><given-names>Pietro</given-names></name><degrees>PhD</degrees><email>pietro.decamilli@yale.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hermann</surname><given-names>Andreas</given-names></name><degrees>MD, PhD</degrees><email>andreas.hermann@med.uni-rostock.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Walker</surname><given-names>Ruth H</given-names></name><degrees>MB, ChB, PhD</degrees><email>ruth.walker@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Monaco</surname><given-names>Anthony P</given-names></name><degrees>MD, PhD</degrees><email>anthony.monaco@tufts.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Danek</surname><given-names>Adrian</given-names></name><degrees>MD</degrees><email>danek@lmu.de</email></contrib></contrib-group><?date-created 20020614?><?date-updated 20230330?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_chac.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_chac.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"chac\" document-type=\"chapter\" object-id=\"chac.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vps13d-md\"><title><italic toggle=\"yes\">VPS13D</italic> Movement Disorder</title><subtitle content-type=\"alt-title\">Synonyms: Spinocerebellar Ataxia, Recessive, Type 4 (SCAR4); Spinocerebellar Ataxia with Saccadic Intrusion (SCASI); <italic toggle=\"yes\">VPS13D</italic> Hyperkinetic Movement Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meijer</surname><given-names>Inge A</given-names></name><degrees>MD, PhD</degrees><aff>CHU Sainte-Justine<break/>Universit&#x000e9; de Montr&#x000e9;al<break/>Montr&#x000e9;al, Qu&#x000e9;bec, Canada</aff><email>inge.meijer@umontreal.ca</email></contrib></contrib-group><?date-created 20190221?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vps13d-md.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps13d-md.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps13d-md\" document-type=\"chapter\" object-id=\"vps13d-md.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_vps35-pd\"><title><italic toggle=\"yes\">VPS35</italic>-Related Parkinson Disease</title><subtitle content-type=\"alt-title\">Synonyms: PARK17, PARK-<italic toggle=\"yes\">VPS35</italic></subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dulski</surname><given-names>Jaroslaw</given-names></name><degrees>MD, PhD</degrees><email>dulski.jaroslaw@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ross</surname><given-names>Owen A</given-names></name><degrees>PhD</degrees><email>ross.owen@mayo.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wszolek</surname><given-names>Zbigniew K</given-names></name><degrees>MD</degrees><email>wszolek.zbigniew@mayo.edu</email></contrib></contrib-group><?date-created 20170810?><?date-updated 20230323?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_vps35-pd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_vps35-pd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"vps35-pd\" document-type=\"chapter\" object-id=\"vps35-pd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-W?><toc-entry id=\"toc_ws1\"><title>Waardenburg Syndrome Type I</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Milunsky</surname><given-names>Jeff Mark</given-names></name><degrees>MD</degrees><aff>Director, Clinical Genetics<break/>Senior Director, Molecular Genetics<break/>Co-Director, Center for Human Genetics, Inc<break/>Cambridge, Massachusetts</aff><email>jmilunsky@chginc.org</email></contrib></contrib-group><?date-created 20010730?><?date-updated 20221020?><?date-revised 20170504?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_ws1.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_ws1.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"ws1\" document-type=\"chapter\" object-id=\"ws1.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wac-id\"><title><italic toggle=\"yes\">WAC</italic>-Related Intellectual Disability</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Varvagiannis</surname><given-names>Konstantinos</given-names></name><degrees>MD</degrees><email>knsvarv@ath.forthnet.gr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>de Vries</surname><given-names>Bert BA</given-names></name><degrees>MD, PhD</degrees><email>bert.devries@radboudumc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Vissers</surname><given-names>Lisenka ELM</given-names></name><degrees>PhD</degrees><email>lisenka.vissers@radboudumc.nl</email></contrib></contrib-group><?date-created 20171130?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wac-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wac-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wac-id\" document-type=\"chapter\" object-id=\"wac-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wagr\"><title>WAGR Spectrum Disorder</title><subtitle content-type=\"alt-title\">Synonyms: WAGR Complex, WAGRO Syndrome, WAGR Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>George</surname><given-names>Andrew M</given-names></name><degrees>BS</degrees><email>georgeam@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Katz</surname><given-names>Zoe</given-names></name><degrees>MS, LCGC</degrees><email>katzz1@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hathaway</surname><given-names>Evan R</given-names></name><degrees>MS, LCGC</degrees><email>hathawaye@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Adams</surname><given-names>Sylvie A</given-names></name><degrees>BA</degrees><email>adamss9@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Berlant</surname><given-names>Zachary</given-names></name><degrees>MD</degrees><email>berlantz@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Duki</surname><given-names>Bamelak Tesfaye</given-names></name><degrees>BA</degrees><email>dukib@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Viswanathan</surname><given-names>Aravind</given-names></name><degrees>BA</degrees><email>viswanatha@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Trout</surname><given-names>Kelly L</given-names></name><degrees>BSN, RN</degrees><email>kelly.trout@wagr.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacFarland</surname><given-names>Suzanne P</given-names></name><degrees>MD</degrees><email>macfarlands@chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kalish</surname><given-names>Jennifer M</given-names></name><degrees>MD, PhD</degrees><email>kalishj@chop.edu</email></contrib></contrib-group><?date-created 20260312?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wagr.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wagr.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wagr\" document-type=\"chapter\" object-id=\"wagr.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wars2-def\"><title>WARS2 Deficiency</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mroczek</surname><given-names>Magdalena</given-names></name><degrees>MD</degrees><email>m.mroczek888@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Busra</surname><given-names>Aynekin</given-names></name><degrees>PhD</degrees><email>busraynekin@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Houlden</surname><given-names>Henry</given-names></name><degrees>MD, PhD</degrees><email>h.houlden@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Efthymiou</surname><given-names>Stephanie</given-names></name><degrees>MSc, PhD</degrees><email>s.efthymiou@ucl.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagy</surname><given-names>Sara</given-names></name><degrees>MD, MSc</degrees><email>s.nagy@ucl.ac.uk</email></contrib></contrib-group><?date-created 20231012?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wars2-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wars2-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wars2-def\" document-type=\"chapter\" object-id=\"wars2-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_was\"><title><italic toggle=\"yes\">WAS</italic>-Related Disorders</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chandra</surname><given-names>Sharat</given-names></name><degrees>MD</degrees><aff>Associate Professor, Division of Bone Marrow Transplantation and Immune Deficiency<break/>Cincinnati Children's Hospital Medical Center;<break/>University of Cincinnati College of Medicine<break/>Cincinnati, Ohio</aff><email>sharat.chandra@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nagaraj</surname><given-names>Chinmayee B</given-names></name><degrees>MS</degrees><aff>Genetic Counselor, Division of Human Genetics<break/>Cincinnati Children's Hospital Medical Center<break/>Cincinnati, Ohio</aff><email>chinmayee.bhimarao@cchmc.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sun</surname><given-names>Miao</given-names></name><degrees>PhD</degrees><aff>Associate Professor of Clinical Pathology<break/>Division of Genomic Medicine<break/>Department of Pathology and Laboratory Medicine<break/>Children's Hospital Los Angeles;<break/>Keck School of Medicine of USC<break/>Los Angeles, California</aff><email>miaosun@chla.usc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chandrakasan</surname><given-names>Shanmuganathan</given-names></name><degrees>MD</degrees><aff>Associate Professor and Director<break/>Immune dysregulation&#x000a0;/ Immunohematology and Immune Defects Transplant Programs<break/>Aflac Cancer and Blood Disorders Center<break/>Children's Healthcare of Atlanta;<break/>Emory University School of Medicine<break/>Atlanta, Georgia</aff><email>schan31@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhang</surname><given-names>Kejian</given-names></name><degrees>MD, MBA</degrees><aff>Professor and Director<break/>Molecular Genetics Laboratory<break/>Division of Diagnostic Genetics and Genomics<break/>Department of Pathology and Clinical Laboratories<break/>Michigan Medicine<break/>University of Michigan<break/>Ann Arbor, Michigan</aff><email>kejian.zhang2017@gmail.com</email><email>kejian@med.umich.edu</email></contrib></contrib-group><?date-created 20040930?><?date-updated 20240815?><?date-revised 20260226?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_was.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_was.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"was\" document-type=\"chapter\" object-id=\"was.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wdr26-id\"><title><italic toggle=\"yes\">WDR26</italic>-Related Intellectual Disability</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Skraban</surname><given-names>Cara M</given-names></name><degrees>MD</degrees><email>skrabanc@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grand</surname><given-names>Katheryn L</given-names></name><degrees>MS</degrees><email>grandk@email.chop.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Deardorff</surname><given-names>Matthew A</given-names></name><degrees>MD, PhD</degrees><email>mdeardorff@chla.usc.edu</email></contrib></contrib-group><?date-created 20190425?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wdr26-id.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr26-id.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr26-id\" document-type=\"chapter\" object-id=\"wdr26-id.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wdr62-pm\"><title><italic toggle=\"yes\">WDR62</italic> Primary Microcephaly</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive Primary Microcephaly 2 With or Without Cortical Malformations, MCPH2</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Verloes</surname><given-names>Alain</given-names></name><degrees>MD, PhD</degrees><email>alain.verloes@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ruaud</surname><given-names>Lyse</given-names></name><degrees>MD, PhD</degrees><email>lyse.ruaud@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Drunat</surname><given-names>S&#x000e9;verine</given-names></name><degrees>PharmD, PhD</degrees><email>severine.drunat@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Passemard</surname><given-names>Sandrine</given-names></name><degrees>MD, PhD</degrees><email>sandrine.passemard@aphp.fr</email></contrib></contrib-group><?date-created 20220217?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wdr62-pm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wdr62-pm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wdr62-pm\" document-type=\"chapter\" object-id=\"wdr62-pm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_weill-ms\"><title>Weill-Marchesani Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Marzin</surname><given-names>Pauline</given-names></name><degrees>MD</degrees><email>pauline.marzin@aphp.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cormier-Daire</surname><given-names>Val&#x000e9;rie</given-names></name><degrees>MD, PhD</degrees><email>valerie.cormier-daire@inserm.fr</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tsilou</surname><given-names>Ekaterini</given-names></name><degrees>MD</degrees><email>ekaterini.tsilou@fda.hhs.edu</email></contrib></contrib-group><?date-created 20071101?><?date-updated 20201210?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_weill-ms.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weill-ms.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weill-ms\" document-type=\"chapter\" object-id=\"weill-ms.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_weiss-kruszka\"><title>Weiss-Kruszka Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">ZNF462</italic> Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kruszka</surname><given-names>Paul</given-names></name><degrees>MD, MPH</degrees><aff>National Human Genome Research Institute\nNational Institutes of Health\nBethesda, Maryland</aff><email>paul.kruszka@nih.gov</email></contrib></contrib-group><?date-created 20191031?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_weiss-kruszka.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_weiss-kruszka.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"weiss-kruszka\" document-type=\"chapter\" object-id=\"weiss-kruszka.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_werner\"><title>Werner Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Oshima</surname><given-names>Junko</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pathology<break/>University of Washington<break/>Seattle, Washington</aff><email>picard@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hisama</surname><given-names>Fuki M</given-names></name><degrees>MD</degrees><aff>Division of Medical Genetics, Department of Pediatrics<break/>University of California Irvine,<break/>Orange, California</aff><email>fhisama@hs.uci.edu</email></contrib></contrib-group><?date-created 20021202?><?date-updated 20260325?><?date-revised 20121213?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_werner.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_werner.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"werner\" document-type=\"chapter\" object-id=\"werner.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wfs\"><title><italic toggle=\"yes\">WFS1</italic> Spectrum Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barrett</surname><given-names>Timothy</given-names></name><degrees>MB BS, PhD</degrees><aff>Professor of P&#x000e6;diatrics, Institute of Cancer and Genomic Sciences<break/>University of Birmingham<break/>Birmingham, United Kingdom</aff><email>t.g.barrett@bham.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tranebj&#x000e6;rg</surname><given-names>Lisbeth</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Medical Genetics and Genetic Audiology, Department of Clinical Genetics<break/>University Hospital / Kennedy Center;<break/>Institute of Clinical Medicine<break/>Panum Institute<break/>University of Copenhagen<break/>Copenhagen, Denmark</aff><email>tranebjaerg@sund.ku.dk</email><email>lisbeth.tranebjaerg@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gupta</surname><given-names>Rajat</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>Birmingham Women's and Children's Hospital<break/>Birmingham, United Kingdom</aff><email>rajatgupta@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>McCarthy</surname><given-names>Liam</given-names></name><degrees>MD</degrees><aff>Department of Urology<break/>Birmingham Women's and Children's Hospital<break/>Birmingham, United Kingdom</aff><email>liammccarthy@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rendtorff</surname><given-names>Nanna Dahl</given-names></name><degrees>PhD</degrees><aff>Department of Clinical Genetics<break/>University Hospital / Kennedy Center<break/>Copenhagen, Denmark</aff><email>nanna.dahl.rendtorff@regionh.dk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Williams</surname><given-names>Denise</given-names></name><degrees>MD</degrees><aff>Department of Medical Genetics<break/>Birmingham Women's and Children's Hospital<break/>Birmingham, United Kingdom</aff><email>denise.williams21@nhs.net</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wright</surname><given-names>Benjamin</given-names></name><degrees>MD</degrees><aff>Department of Neurology<break/>University Hospitals Birmingham<break/>Birmingham, United Kingdom</aff><email>benjamin.wright@uhb.nhs.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dias</surname><given-names>Renuka</given-names></name><degrees>PhD</degrees><aff>Department of Endocrinology<break/>Birmingham Women's and Children's Hospital<break/>Birmingham, United Kingdom</aff><email>r.dias1@nhs.net</email></contrib></contrib-group><?date-created 20090224?><?date-updated 20221201?><?date-revised 20090602?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wfs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wfs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wfs\" document-type=\"chapter\" object-id=\"wfs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_white-sutton\"><title>White-Sutton Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">POGZ</italic>-Related Intellectual Disability Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Assia Batzir</surname><given-names>Nurit</given-names></name><degrees>MD</degrees><aff>Pediatric Genetics Clinic<break/>Schneider Children's Medical Center of Israel<break/>Petah Tikva, Israel</aff><email>nurita3@clalit.org.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>White</surname><given-names>Janson</given-names></name><degrees>PhD</degrees><aff>Invitae Corporation<break/>San Francisco, California</aff><email>janson.white@invitae.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sutton</surname><given-names>V Reid</given-names></name><degrees>MD</degrees><aff>Professor, Molecular &#x00026; Human Genetics<break/>Baylor College of Medicine;<break/>Texas Children's Hospital<break/>Houston, Texas</aff><email>vrsutton@texaschildrens.org</email></contrib></contrib-group><?date-created 20210916?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_white-sutton.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_white-sutton.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"white-sutton\" document-type=\"chapter\" object-id=\"white-sutton.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wiedemann-steiner\"><title>Wiedemann-Steiner Syndrome</title><subtitle content-type=\"alt-title\">Synonym: <italic toggle=\"yes\">KMT2A</italic>-Related Neurodevelopmental Disorder</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sheppard</surname><given-names>Sarah E</given-names></name><degrees>MD, PhD</degrees><aff>Unit on Vascular Malformations<break/>Division of Intramural Research<break/>Eunice Kennedy Shriver National Institute of Child Health and Human Development<break/>Bethesda, Maryland</aff><email>sarah.sheppard@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Quintero-Rivera</surname><given-names>Fabiola</given-names></name><degrees>MD</degrees><aff>Division of Genetic and Genomic Medicine<break/>Departments of Pathology, Laboratory Medicine, and Pediatrics<break/>School of Medicine<break/>University of California, Irvine;<break/>UC Irvine Health<break/>Orange, California</aff><email>fabiolaq@hs.uci.edu</email></contrib></contrib-group><?date-created 20220526?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wiedemann-steiner.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Clinical_Characteristi\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Clinical_Characteristi\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Genetically_Related_Al\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Genetically_Related_Al\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wiedemann-steiner.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wiedemann-steiner\" document-type=\"chapter\" object-id=\"wiedemann-steiner.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_williams\"><title>Williams Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Williams-Beuren Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Morris</surname><given-names>Colleen A</given-names></name><degrees>MD, FACMG, FAAP</degrees><email>colleen.morris@unlv.edu</email></contrib></contrib-group><?date-created 19990409?><?date-updated 20230413?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_williams.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_williams.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"williams\" document-type=\"chapter\" object-id=\"williams.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wilms-ov\"><title>Wilms Tumor Predisposition</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Turner</surname><given-names>Joyce T</given-names></name><degrees>MS</degrees><email>jturner@childrensnational.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Brzezinski</surname><given-names>Jack</given-names></name><degrees>MD, PhD</degrees><email>jack.brzezinski@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dome</surname><given-names>Jeffrey S</given-names></name><degrees>MD, PhD</degrees><email>jdome@childrensnational.org</email></contrib></contrib-group><?date-created 20031219?><?date-updated 20220324?><?date-revised 20040524?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wilms-ov.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Clinical_Characteristics_of_Wil\"><title> Clinical Characteristics of Wilms Tumor</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Clinical_Characteristics_of_Wil\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Mechanisms_of_Predisposition_to\"><title> Mechanisms of Predisposition to Wilms Tumor</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Mechanisms_of_Predisposition_to\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Evaluation_Strategy_to_Identify\"><title> Evaluation Strategy to Identify the Genetic Cause of Wilms Tumor in a Proband</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Evaluation_Strategy_to_Identify\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Management\"><title> Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Genetic_Counseling\"><title> Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilms-ov.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilms-ov\" document-type=\"chapter\" object-id=\"wilms-ov.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wilson\"><title>Wilson Disease</title><subtitle content-type=\"alt-title\">Synonym: Hepatolenticular Degeneration</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Weiss</surname><given-names>Karl Heinz</given-names></name><degrees>MD</degrees><aff>Internal Medicine<break/>Salem Medical Center<break/>Heidelberg, Germany</aff><email>karlheinz.weiss@stadtmission-hd.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schilsky</surname><given-names>Michael</given-names></name><degrees>MD</degrees><aff>Yale University School of Medicine<break/>New Haven, Connecticut</aff><email>michael.schilsky@yale.edu</email></contrib></contrib-group><?date-created 19991022?><?date-updated 20230112?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wilson.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wilson.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wilson\" document-type=\"chapter\" object-id=\"wilson.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wss\"><title>Woodhouse-Sakati Syndrome</title><subtitle content-type=\"alt-title\">Synonym: Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, and Extrapyramidal Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bohlega</surname><given-names>Saeed A</given-names></name><degrees>MD, FRCPC, FAAN</degrees><aff>Professor and Consultant, Department of Neurosciences\nKing Faisal Specialist Hospital and Research Center\nRiyadh, Saudi Arabia</aff><email>boholega@kfshrc.edu.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Abusrair</surname><given-names>Ali</given-names></name><degrees>MD</degrees><aff>Neurologist, Department of Neurosciences\nKing Faisal Specialist Hospital and Research Center\nRiyadh, Saudi Arabia</aff><email>aabusrair@moh.gov.sa</email></contrib></contrib-group><?date-created 20160804?><?date-updated 20210708?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wss.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wss.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wss\" document-type=\"chapter\" object-id=\"wss.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_wt1-dis\"><title><italic toggle=\"yes\">WT1</italic> Disorder</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lipska-Zi&#x00119;tkiewicz</surname><given-names>Beata S</given-names></name><degrees>MD, PhD</degrees><aff>Centre for Rare Diseases<break/>Clinical Genetics Unit<break/>Department of Biology and Genetics<break/>Medical University of Gda&#x00144;sk<break/>Gda&#x00144;sk, Poland</aff><email>b.lipska@gumed.edu.pl</email></contrib></contrib-group><?date-created 20200430?><?date-updated 20250515?><?date-revised 20210429?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_wt1-dis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Genetically_Related_Allelic_Diso\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Genetically_Related_Allelic_Diso\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_wt1-dis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"wt1-dis\" document-type=\"chapter\" object-id=\"wt1-dis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-X?><toc-entry id=\"toc_xp\"><title>Xeroderma Pigmentosum</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kraemer</surname><given-names>Kenneth H</given-names></name><degrees>MD</degrees><email>kraemerk@nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>DiGiovanna</surname><given-names>John J</given-names></name><degrees>MD</degrees><email>jdigiova@mail.nih.gov</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tamura</surname><given-names>Deborah</given-names></name><degrees>RN</degrees><email>tamurad@mail.nih.gov</email></contrib></contrib-group><?date-created 20030620?><?date-updated 20220324?><?date-revised 20130214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Genetically_Related_Allelic_Disorders\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Genetically_Related_Allelic_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xp\" document-type=\"chapter\" object-id=\"xp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xia-gibbs\"><title>Xia-Gibbs Syndrome</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chander</surname><given-names>Varuna</given-names></name><degrees>MS</degrees><email>varuna.chander@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wangler</surname><given-names>Michael</given-names></name><degrees>MD</degrees><email>mw147467@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Gibbs</surname><given-names>Richard</given-names></name><degrees>PhD</degrees><email>agibbs@bcm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Murdock</surname><given-names>David</given-names></name><degrees>MD</degrees><email>dmurdock@gmail.com</email></contrib></contrib-group><?date-created 20211209?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xia-gibbs.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xia-gibbs.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xia-gibbs\" document-type=\"chapter\" object-id=\"xia-gibbs.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-ag\"><title>X-Linked Acrogigantism</title><subtitle content-type=\"alt-title\">Synonyms: Chromosome Xq26.3 Duplication Syndrome, X-LAG, XLAG</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Iacovazzo</surname><given-names>Donato</given-names></name><degrees>MD</degrees><email>d.iacovazzo@qmul.ac.uk</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Korbonits</surname><given-names>M&#x000e1;rta</given-names></name><degrees>MD, PhD</degrees><email>m.korbonits@qmul.ac.uk</email></contrib></contrib-group><?date-created 20180201?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-ag.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ag.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ag\" document-type=\"chapter\" object-id=\"x-ag.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-ald\"><title>X-Linked Adrenoleukodystrophy</title><subtitle content-type=\"alt-title\">Synonym: X-ALD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raymond</surname><given-names>Gerald V</given-names></name><degrees>MD</degrees><email>graymon4@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moser</surname><given-names>Ann B</given-names></name><degrees>BA</degrees><email>mosera@kennedykrieger.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fatemi</surname><given-names>Ali</given-names></name><degrees>MD</degrees><email>fatemi@kennedykrieger.org</email></contrib></contrib-group><?date-created 19990326?><?date-updated 20230406?><?date-revised 20020815?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-ald.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-ald.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-ald\" document-type=\"chapter\" object-id=\"x-ald.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xla\"><title>X-Linked Agammaglobulinemia</title><subtitle content-type=\"alt-title\">Synonyms: Bruton's Agammaglobulinemia, BTK Deficiency, XLA</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Smith</surname><given-names>CI Edvard</given-names></name><degrees>MD, PhD</degrees><aff>Karolinska Institutet<break/>Stockholm, Sweden</aff><email>edvard.smith@ki.se</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Bergl&#x000f6;f</surname><given-names>Anna</given-names></name><degrees>VMD, PhD</degrees><aff>Karolinska Institutet<break/>Stockholm, Sweden</aff><email>anna.berglof@ki.se</email></contrib></contrib-group><?date-created 20010405?><?date-updated 20240627?><?date-revised 20041104?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xla.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xla.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xla\" document-type=\"chapter\" object-id=\"xla.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_retinoschisis\"><title>X-Linked Congenital Retinoschisis</title><subtitle content-type=\"alt-title\">Synonym: X-Linked Retinoschisis</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Sieving</surname><given-names>Paul A</given-names></name><degrees>MD, PhD</degrees><aff>Professor of Ophthalmology<break/>Director of the Center for Ocular Regenerative Therapy (CORT)<break/>University of California, Davis<break/>Sacramento, California</aff><email>pasieving@ucdavis.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Ian M</given-names></name><degrees>MD, CM</degrees><aff>Professor, Department of Ophthalmology and Visual Sciences<break/>University of Alberta<break/>Royal Alexandra Hospital<break/>Edmonton, Alberta, Canada</aff><email>macdonal@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoang</surname><given-names>Stephanie</given-names></name><degrees>MSc</degrees><aff>Genetic Counselor, Department of Medical Genetics<break/>University of Alberta Hospital<break/>Edmonton, Alberta, Canada</aff><email>stephanie.hoang@albertahealthservices.ca</email></contrib></contrib-group><?date-created 20031024?><?date-updated 20201105?><?date-revised 20070618?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_retinoschisis.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Genetically_Related_Alleli\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Genetically_Related_Alleli\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_retinoschisis.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"retinoschisis\" document-type=\"chapter\" object-id=\"retinoschisis.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_csnb\"><title>X-Linked Congenital Stationary Night Blindness</title><subtitle content-type=\"alt-title\">Synonym: X-Linked CSNB</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>MacDonald</surname><given-names>Ian M</given-names></name><degrees>MD, CM</degrees><aff>Departments of Ophthalmology and Medical Genetics\nUniversity of Alberta\nEdmonton, Alberta, Canada</aff><email>macdonal@ualberta.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoang</surname><given-names>Stephanie</given-names></name><degrees>MSc</degrees><aff>Alberta Health Services\nEdmonton, Alberta, Canada</aff><email>stephanie.hoang@albertapubliclabs.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tuupanen</surname><given-names>Sari</given-names></name><degrees>PhD</degrees><aff>Blueprint Genetics\nHelsinki, Finland</aff><email>sari.tuupanen@blueprintgenetics.com</email></contrib></contrib-group><?date-created 20080116?><?date-updated 20190703?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_csnb.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_csnb.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"csnb\" document-type=\"chapter\" object-id=\"csnb.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xdp\"><title>X-Linked Dystonia-Parkinsonism</title><subtitle content-type=\"alt-title\">Synonyms: DYT3, DYT-TAF1, Lubag</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Evidente</surname><given-names>Virgilio Gerald H</given-names></name><degrees>MD</degrees><aff>Director, Movement Disorders\nCenter of Arizona\nScottsdale, Arizona</aff><email>vevidente@movementdisorders.us</email></contrib></contrib-group><?date-created 20051213?><?date-updated 20180215?><?date-revised 20100622?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xdp.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xdp.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xdp\" document-type=\"chapter\" object-id=\"xdp.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_rickets-xlh\"><title>X-Linked Hypophosphatemia</title><subtitle content-type=\"alt-title\">Synonyms: X-Linked Hypophosphatemic Rickets (XLHR); X-Linked Vitamin D-Resistant Rickets; Hypophosphatemic Rickets, <italic toggle=\"yes\">PHEX</italic>-Related</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Laurent</surname><given-names>Micha&#x000eb;l R</given-names></name><degrees>MD, PhD</degrees><aff>Centre for Metabolic Bone Diseases<break/>University Hospitals Leuven<break/>Leuven, Belgium</aff><email>michael.laurent@uzleuven.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Harvengt</surname><given-names>Pol</given-names></name><degrees>PhD</degrees><aff>XLH Belgium<break/>Belgian Association of Patients with XLH (A member of the International XLH Alliance)<break/>Waterloo, Belgium</aff><email>pol.harvengt@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mortier</surname><given-names>Geert R</given-names></name><degrees>MD, PhD</degrees><aff>Centre for Human Genetics<break/>University Hospitals Leuven<break/>Leuven, Belgium</aff><email>geert.mortier@uzleuven.be</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>B&#x000f6;ckenhauer</surname><given-names>Detlef</given-names></name><degrees>MD, PhD</degrees><aff>Paediatric Nephrology<break/>University Hospitals Leuven<break/>Leuven, Belgium</aff><email>detlef.bockenhauer@uzleuven.be</email></contrib></contrib-group><?date-created 20120209?><?date-updated 20231214?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_rickets-xlh.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Genetically_Related_Allelic\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Genetically_Related_Allelic\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_rickets-xlh.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"rickets-xlh\" document-type=\"chapter\" object-id=\"rickets-xlh.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-lpd\"><title>X-Linked Lymphoproliferative Disease</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Meyer</surname><given-names>Lauren</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pediatrics<break/>University of Washington<break/>Seattle, Washington</aff><email>lauren.meyer@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hines</surname><given-names>Melissa</given-names></name><degrees>MD</degrees><aff>Division of Critical Care Medicine<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>melissa.hines@stjude.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Zhang</surname><given-names>Kejian</given-names></name><degrees>MD, MBA</degrees><aff>GoBroad Healthcare Group<break/>Beijing, China</aff><email>kejian.zhang2017@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nichols</surname><given-names>Kim E</given-names></name><degrees>MD</degrees><aff>Department of Oncology<break/>St Jude Children's Research Hospital<break/>Memphis, Tennessee</aff><email>kim.nichols@stjude.org</email></contrib></contrib-group><?date-created 20040227?><?date-updated 20240516?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-lpd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Genetically_Related_Allelic_Disord\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Genetically_Related_Allelic_Disord\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-lpd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-lpd\" document-type=\"chapter\" object-id=\"x-lpd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_mtm\"><title>X-Linked Myotubular Myopathy</title><subtitle content-type=\"alt-title\">Synonyms: Myotubular Myopathy (MTM), XLCNM, X-Linked Centronuclear Myopathy, XLMTM</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Dowling</surname><given-names>James J</given-names></name><degrees>MD, PhD</degrees><aff>Division of Neurology\nProgram for Genetics and Genome Biology\nHospital for Sick Children\nToronto, Ontario, Canada</aff><email>james.dowling@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lawlor</surname><given-names>Michael W</given-names></name><degrees>MD, PhD</degrees><aff>Department of Pathology and Laboratory Medicine and Neuroscience Research Center\nMedical College of Wisconsin\nMilwaukee, Wisconsin</aff><email>mlawlor@mcw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Das</surname><given-names>Soma</given-names></name><degrees>PhD</degrees><aff>Department of Human Genetics\nUniversity of Chicago\nChicago, Illinois</aff><email>sdas@genetics.uchicago.edu</email></contrib></contrib-group><?date-created 20020225?><?date-updated 20180823?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_mtm.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_mtm.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"mtm\" document-type=\"chapter\" object-id=\"mtm.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_epp-xl\"><title>X-Linked Protoporphyria</title><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Balwani</surname><given-names>Manisha</given-names></name><degrees>MD, MS, FACMG</degrees><email>manisha.balwani@mssm.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Desnick</surname><given-names>Robert</given-names></name><degrees>MD, PhD, FACMG</degrees><email>robert.desnick@mssm.edu</email></contrib><contrib contrib-type=\"author\"><collab>Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network</collab></contrib></contrib-group><?date-created 20130214?><?date-updated 20191127?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_epp-xl.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_epp-xl.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"epp-xl\" document-type=\"chapter\" object-id=\"epp-xl.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_x-scid\"><title>X-Linked Severe Combined Immunodeficiency</title><subtitle content-type=\"alt-title\">Synonyms: SCID-X1, X-Linked SCID (X-SCID)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Allenspach</surname><given-names>Eric J</given-names></name><degrees>MD, PhD</degrees><email>eric.allenspach@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Rawlings</surname><given-names>David J</given-names></name><degrees>MD</degrees><email>drawling@uw.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Petrovic</surname><given-names>Aleksandra</given-names></name><degrees>MD</degrees><email>aleksandra.petrovic@seattlechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chen</surname><given-names>Karin</given-names></name><degrees>MD</degrees><email>karin.chen@seattlechildrens.org</email></contrib></contrib-group><?date-created 20030826?><?date-updated 20210805?><?date-revised 20251204?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_x-scid.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Genetically_Related_Allelic_Disor\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Genetically_Related_Allelic_Disor\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_x-scid.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"x-scid\" document-type=\"chapter\" object-id=\"x-scid.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_sedt\"><title>X-Linked Spondyloepiphyseal Dysplasia Tarda</title><subtitle content-type=\"alt-title\">Synonyms: <italic toggle=\"yes\">TRAPPC2-</italic>Related SED Tarda, X-Linked (SED-XL); <italic toggle=\"yes\">TRAPPC2</italic>-Related X-Linked Spondyloepiphyseal Dysplasia Tarda</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Tiller</surname><given-names>George E</given-names></name><degrees>MD, PhD</degrees><aff>Department of Genetics<break/>Southern California Permanente Medical Group<break/>Los Angeles, California</aff><email>george.e.tiller@kp.org</email></contrib></contrib-group><?date-created 20011101?><?date-updated 20260325?><?date-revised 20230406?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_sedt.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_sedt.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"sedt\" document-type=\"chapter\" object-id=\"sedt.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_xq28-dup\"><title>Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated</title><subtitle content-type=\"alt-title\">Synonym: Xq28 Int22h-1/Int22h-2 Duplication Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ballout</surname><given-names><?break?>Rami A</given-names></name><degrees>MD</degrees><aff>Clinical Fellow, Medical Genetics and Genomic Medicine Training Program<break/>National Human Genome Research Institute (NHGRI)<break/>National Institutes of Health (NIH)<break/>Bethesda, Maryland</aff><email>rami-ballout@hotmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>El-Hattab</surname><given-names>Ayman W</given-names></name><degrees>MD, FAAP, FACMG</degrees><aff>Professor, Department of Clinical Sciences<break/>College of Medicine<break/>University of Sharjah<break/>Sharjah, United Arab Emirates</aff><email>elhattabaw@yahoo.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Schaaf</surname><given-names>Christian P</given-names></name><degrees>MD, PhD</degrees><aff>Professor and Chairman, Institute of Human Genetics<break/>Heidelberg University<break/>Heidelberg, Germany</aff><email>christian.schaaf@med.uni-heidelberg.de</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Cheung</surname><given-names>Sau Wai</given-names></name><degrees>PhD, MBA, FACMG</degrees><aff>Professor, Department of Molecular and Human Genetics<break/>Baylor College of Medicine<break/>Houston, Texas</aff><email>scheung@bcm.edu</email></contrib></contrib-group><?date-created 20160310?><?date-updated 20250904?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_xq28-dup.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Genetically_Related_Allelic_Dis\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Genetically_Related_Allelic_Dis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_xq28-dup.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"xq28-dup\" document-type=\"chapter\" object-id=\"xq28-dup.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-Y?><toc-entry id=\"toc_yars1-def\"><title>YARS1 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: Autosomal Recessive <italic toggle=\"yes\">YARS1</italic>-Related Disorder, Tyrosyl-tRNA Synthetase 1 Deficiency (TyrRS 1 Deficiency)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Averdunk</surname><given-names>Luisa</given-names></name><degrees>MD</degrees><email>luisasusan.averdunk@med.uni-duesseldorf.de</email><email>luisa.aver@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Wang</surname><given-names>Hua</given-names></name><degrees>MD, PhD</degrees><email>huawang@llu.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Hoytema van Konijnenburg</surname><given-names>Eva MM</given-names></name><degrees>MD</degrees><email>e.m.m.hoytemavankonijnenburg-2@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fuchs</surname><given-names>Sabine A</given-names></name><degrees>MD</degrees><email>s.fuchs@umcutrecht.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Nasser Samra</surname><given-names>Nadra</given-names></name><email>nadran@ziv.gov.il</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mandel</surname><given-names>Hanna</given-names></name><degrees>MD</degrees><email>hmandel2637@gmail.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kwok</surname><given-names>Anne Mei-Kwun</given-names></name><degrees>MBBS(HK), FHKCP</degrees><email>kwokmk@ha.org.hk</email></contrib></contrib-group><?date-created 20250703?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_yars1-def.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yars1-def.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yars1-def\" document-type=\"chapter\" object-id=\"yars1-def.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_yci\"><title>Y Chromosome Infertility</title><subtitle content-type=\"alt-title\">Synonym: Y Chromosome-Related Azoospermia</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Fan</surname><given-names>Yuting</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Silber</surname><given-names>Sherman J</given-names></name><degrees>MD</degrees><email>silber@infertile.com</email></contrib></contrib-group><?date-created 20021031?><?date-updated 20190801?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_yci.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Genetically_Related_Disorders\"><title>Genetically Related Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Genetically_Related_Disorders\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yci.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yci\" document-type=\"chapter\" object-id=\"yci.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_yif1b-ndd\"><title><italic toggle=\"yes\">YIF1B</italic>-Related Neurodevelopmental Disorder</title><subtitle content-type=\"alt-title\">Synonym: Kaya-Barakat-Masson Syndrome (KABAMAS)</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Medico-Salsench</surname><given-names>Eva</given-names></name><degrees>MSc</degrees><email>e.medicosalsench@erasmusmc.nl</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Kaya</surname><given-names>Namik</given-names></name><degrees>PhD</degrees><email>nkaya@kfshrc.edu.sa</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Barakat</surname><given-names>Tahsin Stefan</given-names></name><degrees>MD, PhD, MSc</degrees><email>t.barakat@erasmusmc.nl</email></contrib></contrib-group><?date-created 20240912?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_yif1b-ndd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Genetically_Related_Allelic_Di\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Genetically_Related_Allelic_Di\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_yif1b-ndd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"yif1b-ndd\" document-type=\"chapter\" object-id=\"yif1b-ndd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><?alpha-index-anchor IX-Z?><toc-entry id=\"toc_zap70-scid\"><title>ZAP70 Deficiency</title><subtitle content-type=\"alt-title\">Synonyms: ZAP70 Combined Immunodeficiency, ZAP-70 Deficiency</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Owens</surname><given-names>Joshua W</given-names></name><degrees>MD</degrees><aff>UPMC Children's Hospital of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>owensjw@upmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Grunebaum</surname><given-names>Eyal</given-names></name><degrees>MD</degrees><aff>Co-director, Food Allergy and Anaphylaxis Program<break/>Division of Immunology and Allergy<break/>SickKids<break/>Toronto, Canada</aff><email>eyal.grunebaum@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Chong</surname><given-names>Hey Jin</given-names></name><degrees>MD, PhD, FAAAAI</degrees><aff>Division Director, Allergy &#x00026; Immunology<break/>Director, Pittsburgh Immunogenetics Discovery Center<break/>Associate Professor of Pediatrics<break/>UPMC Children&#x02019;s Hospital of Pittsburgh<break/>Pittsburgh, Pennsylvania</aff><email>hey.chong@chp.edu</email></contrib></contrib-group><?date-created 20091020?><?date-updated 20260609?><?date-revised 20210923?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_zap70-scid.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Genetically_Related_Allelic_D\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Genetically_Related_Allelic_D\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zap70-scid.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zap70-scid\" document-type=\"chapter\" object-id=\"zap70-scid.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_pbd\"><title>Zellweger Spectrum Disorder</title><subtitle content-type=\"alt-title\">Synonym: ZSD</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Steinberg</surname><given-names>Steven J</given-names></name><degrees>PhD</degrees><aff>ARUP Laboratories<break/>Salt Lake City, Utah</aff><email>steven.steinberg@aruplab.com</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raymond</surname><given-names>Gerald V</given-names></name><degrees>MD</degrees><aff>Department of Genetic Medicine<break/>Johns Hopkins Hospital<break/>Baltimore, Maryland</aff><email>graymon4@jhmi.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Braverman</surname><given-names>Nancy E</given-names></name><degrees>MS, MD</degrees><aff>Departments of Pediatrics and Human Genetics<break/>McGill University and Research Institute of the McGill University Health Center<break/>Montreal, Quebec, Canada</aff><email>nancy.braverman@mcgill.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Moser</surname><given-names>Ann B</given-names></name><degrees>BA</degrees><aff>The Peroxisomal Diseases Laboratory<break/>Kennedy Krieger Institute<break/>Department of Neurology<break/>Johns Hopkins University School of Medicine<break/>Baltimore, Maryland</aff><email>mosera@kennedykrieger.org</email></contrib></contrib-group><?date-created 20031212?><?date-updated 20201029?><?date-revised 20171221?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_pbd.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.GeneReview_Scope\"><title><italic toggle=\"yes\">GeneReview</italic> Scope</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.GeneReview_Scope\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Genetically_Related_Allelic_Disorder\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Genetically_Related_Allelic_Disorder\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Genetic_Counseling\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Resources\"><title>Resources</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Resources\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Molecular_Genetics\"><title>Molecular Genetics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Molecular_Genetics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.Chapter_Notes\"><title>Chapter Notes</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.Chapter_Notes\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_pbd.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"pbd\" document-type=\"chapter\" object-id=\"pbd.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_zttk\"><title>Zhu-Tokita-Takenouchi-Kim Syndrome</title><subtitle content-type=\"alt-title\">Synonyms: SON Deficiency Syndrome, <italic toggle=\"yes\">SON</italic>-Related Neurodevelopmental Disorder, <italic toggle=\"yes\">SON</italic>-Related Zhu-Tokita-Takenouchi-Kim Syndrome, ZTTK Syndrome</subtitle><contrib-group><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Mori</surname><given-names>Mari</given-names></name><degrees>MD</degrees><email>mari.mori@emory.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Lemaire</surname><given-names>Mathieu</given-names></name><degrees>MD, PhD</degrees><email>mathieu.lemaire@sickkids.ca</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Raines</surname><given-names>Grace</given-names></name><degrees>MD</degrees><email>graceraines@uabmc.edu</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Stone</surname><given-names>Brandon S</given-names></name><degrees>MD</degrees><email>brandon.stone@nationwidechildrens.org</email></contrib><contrib contrib-type=\"author\"><name name-style=\"western\"><surname>Ahn</surname><given-names>Eun-Young Erin</given-names></name><degrees>PhD</degrees><email>eyahn@uabmc.edu</email></contrib></contrib-group><?date-created 20250925?><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\"/>\n</nav-pointer><toc-entry id=\"toc_zttk.Summary\"><title>Summary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Summary\" object-type=\"abstract\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Diagnosis\"><title>Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Clinical_Characteristics\"><title>Clinical Characteristics</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Clinical_Characteristics\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Genetically_Related_Allelic_Disorde\"><title>Genetically Related (Allelic) Disorders</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Genetically_Related_Allelic_Disorde\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Differential_Diagnosis\"><title>Differential Diagnosis</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Differential_Diagnosis\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Management\"><title>Management</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.Management\" object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.Genetic_Counseling\"><title>Genetic Counseling</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" 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object-type=\"section\"/>\n</nav-pointer></toc-entry><toc-entry id=\"toc_zttk.References\"><title>References</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"zttk\" document-type=\"chapter\" object-id=\"zttk.References\" object-type=\"section\"/>\n</nav-pointer></toc-entry></toc-entry><toc-entry id=\"toc_glossary\"><title><italic toggle=\"yes\">GeneReviews</italic> Glossary</title><nav-pointer nav-pointer-type=\"point\">\n<related-object link-type=\"booklink\" source-id=\"gene\" document-id=\"glossary\" document-type=\"glossary\"/>\n</nav-pointer></toc-entry></toc></book-part-wrapper>",
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                    "content": "<?xml version=\"1.0\" encoding=\"UTF-8\"?><article xml:lang=\"en\" article-type=\"research-article\"><front><journal-meta><journal-id journal-id-type=\"pmc-domain-id\">4</journal-id><journal-id journal-id-type=\"pmc-domain\">nar</journal-id><journal-title-group><journal-title>Nucleic Acids Research</journal-title><abbrev-journal-title>Nucleic Acids Res</abbrev-journal-title></journal-title-group><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type=\"pmcid\">PMC3258128</article-id><article-id pub-id-type=\"pmcaid\">3258128</article-id><article-id pub-id-type=\"pmcaiid\">3258128</article-id><article-id pub-id-type=\"pmid\">21937511</article-id><article-id pub-id-type=\"doi\">10.1093/nar/gkr715</article-id><title-group><article-title>Hepato-specific microRNA-122 facilitates accumulation of newly synthesized miRNA through regulating PRKRA</article-title></title-group><contrib-group content-type=\"author\"><contrib><name name-style=\"western\"><surname>Li</surname><given-names initials=\"S\">Shuai</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Zhu</surname><given-names initials=\"J\">Juanjuan</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1,2</xref></contrib><contrib><name name-style=\"western\"><surname>Fu</surname><given-names initials=\"H\">Hanjiang</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Wan</surname><given-names initials=\"J\">Jing</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Hu</surname><given-names initials=\"Z\">Zheng</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Liu</surname><given-names initials=\"S\">Shanshan</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Li</surname><given-names initials=\"J\">Jie</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1,2</xref></contrib><contrib><name name-style=\"western\"><surname>Tie</surname><given-names initials=\"Y\">Yi</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Xing</surname><given-names initials=\"R\">Ruiyun</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Zhu</surname><given-names initials=\"J\">Jie</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Sun</surname><given-names initials=\"Z\">Zhixian</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref></contrib><contrib><name name-style=\"western\"><surname>Zheng</surname><given-names initials=\"X\">Xiaofei</given-names></name><xref ref-type=\"aff\" rid=\"gkr715-AFF1\">1</xref><xref rid=\"gkr715-COR1\" ref-type=\"author-notes\">*</xref></contrib></contrib-group><aff id=\"gkr715-AFF1\"><sup>1</sup>Beijing Institute of Radiation Medicine, Beijing 100850 and <sup>2</sup>Anhui Medical University, Hefei 230032, P. R. China</aff><author-notes><fn id=\"gkr715-COR1\"><label>✉</label><p>*To whom correspondence should be addressed. Tel: +86 10 68214653; Fax: +86 10 68214653; Email: <email>xfzheng100@126.com</email></p></fn><fn id=\"fn1\"><p>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</p></fn></author-notes><pub-date><day>21</day><month>9</month><year>2011</year></pub-date><volume>40</volume><issue>2</issue><fpage>884</fpage><page-range>884–891</page-range><pub-history><event event-type=\"pmc-release\"><date><day>17</day><month>1</month><year>2012</year></date></event></pub-history><permissions><copyright-statement>© The Author(s) 2011. Published by Oxford University Press.</copyright-statement><license><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://creativecommons.org/licenses/by-nc/3.0\" ext-link-type=\"uri\">http://creativecommons.org/licenses/by-nc/3.0</ext-link>), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"gkr715.pdf\" content-type=\"pmc-pdf\"><?cloudpmc-path dfa9/3258128/9929d8300568/gkr715.pdf?><?cloudpmc-bucket app?><?size 1559463?></self-uri><abstract id=\"abstract1\"><title>Abstract</title><p>microRNAs (miRNAs) are a versatile class of non-coding RNAs involved in regulation of various biological processes. miRNA-122 (miR-122) is specifically and abundantly expressed in human liver. In this study, we employed 3′-end biotinylated synthetic miR-122 to identify its targets based on affinity purification. Quantitative RT-PCR analysis of the affinity purified RNAs demonstrated a specific enrichment of several known miR-122 targets such as CAT-1 (also called SLC7A1), ADAM17 and BCL-w. Using microarray analysis of affinity purified RNAs, we also discovered many candidate target genes of miR-122. Among these candidates, we confirmed that protein kinase, interferon-inducible double-stranded RNA-dependent activator (PRKRA), a Dicer-interacting protein, is a direct target gene of miR-122. miRNA quantitative-RT–PCR results indicated that miR-122 and small interfering RNA against PRKRA may facilitate the accumulation of newly synthesized miRNAs but did not detectably affect endogenous miRNAs levels. Our findings will lead to further understanding of multiple functions of this hepato-specific miRNA. We conclude that miR-122 could repress PRKRA expression and facilitate accumulation of newly synthesized miRNAs.</p></abstract><custom-meta-group><custom-meta><meta-name>status</meta-name><meta-value>released</meta-value></custom-meta><custom-meta><meta-name>display-pdf</meta-name><meta-value>yes</meta-value></custom-meta><custom-meta><meta-name>is-olf</meta-name><meta-value>no</meta-value></custom-meta><custom-meta><meta-name>is-manuscript</meta-name><meta-value>no</meta-value></custom-meta><custom-meta><meta-name>is-preprint</meta-name><meta-value>no</meta-value></custom-meta><custom-meta><meta-name>is-journal-matter</meta-name><meta-value>no</meta-value></custom-meta><custom-meta><meta-name>is-scanned</meta-name><meta-value>no</meta-value></custom-meta><custom-meta><meta-name>is-retracted</meta-name><meta-value>no</meta-value></custom-meta></custom-meta-group></article-meta><notes notes-type=\"article-notes\"><sec id=\"historyarticle-meta1\" sec-type=\"history\" disp-level=\"2\"><p>Received 2010 Dec 13; Revised 2011 Aug 14; Accepted 2011 Aug 18; Issue date 2012 Jan; Collection date 2012 Jan.</p></sec></notes></front><body><sec id=\"sec1\" disp-level=\"1\"><title>INTRODUCTION</title><p>MicroRNAs (miRNAs) are small conserved RNAs of ∼22 nt which negatively modulate gene expression in animals and plants, primarily through base paring to the 3′-untranslated region (UTR) of target messenger RNAs (mRNAs). This leads to mRNA cleavage and/or translation repression (<xref rid=\"gkr715-B1\" ref-type=\"bibr\">1</xref>). miRNAs are primarily transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by Drosha ribonuclease III enzyme to produce an ∼70-nt stem–loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA. The mature miRNA is incorporated into an RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA. Bioinformatic analysis predicts that each miRNA may regulate hundreds of target genes, suggesting that miRNAs may play a role in almost every biological pathway (<xref rid=\"gkr715-B2\" ref-type=\"bibr\">2</xref>). Indeed, miRNAs have been implicated in the regulation of various cellular processes, including cell proliferation, apoptosis and stress responses (<xref rid=\"gkr715-B3\" ref-type=\"bibr\">3–6</xref>).</p><p>One of the first clues of the existence of miRNAs in mammals came from studies on genetic alterations in woodchuck liver tumors. In 1989, a gene rearrangement of c-myc and an unusual transcript, named <italic>hcr</italic>, was described in one of these tumors. This transcript was characterized as liver specific, essentially non-coding, specifically nuclear and processed by endonucleases (<xref rid=\"gkr715-B7\" ref-type=\"bibr\">7</xref>). Furthermore, <italic>hcr</italic> was proposed to be the precursor for miR-122. In the current understanding, the part of the <italic>hcr</italic> transcript encompassing the so-called ‘pri-miRNA’ is predicted to be processed to form a 66-nt long ‘pre-miRNA’, which presents a hairpin structure with 79% base pairing, and which will ultimately be cleaved by the endonuclease Dicer to form the mature miR-122 (<xref rid=\"gkr715-B8\" ref-type=\"bibr\">8</xref>). Recent works on tissue-specific miRNAs has demonstrated miRNAs participation in tissue specification and cell lineage decisions (<xref rid=\"gkr715-B9\" ref-type=\"bibr\">9–11</xref>). Among these tissue-specific miRNAs, miR-122 is one which is specifically expressed in adult liver and constitutes 70% of the total miRNA population (<xref rid=\"gkr715-B12\" ref-type=\"bibr\">12–14</xref>). Recent studies showed that miR-122 could modulate lipid metabolism (<xref rid=\"gkr715-B15\" ref-type=\"bibr\">15</xref>,<xref rid=\"gkr715-B16\" ref-type=\"bibr\">16</xref>), hepatitis C virus (HCV) replication (<xref rid=\"gkr715-B17\" ref-type=\"bibr\">17–19</xref>), apoptosis (<xref rid=\"gkr715-B20\" ref-type=\"bibr\">20</xref>) and play a role in hepatocellular carcinoma (HCC) (<xref rid=\"gkr715-B21\" ref-type=\"bibr\">21–23</xref>). To better understand the role of this liver-specific miRNA, the identification of the target genes of miR-122 is necessary.</p><p>In the present study, we employed 3′-end biotinylated synthetic miR-122 to identify its target genes based on affinity purification as described previously (<xref rid=\"gkr715-B24\" ref-type=\"bibr\">24</xref>,<xref rid=\"gkr715-B25\" ref-type=\"bibr\">25</xref>). Quantitative reverse transcriptase–polymerase chain reaction (RT–PCR) analysis of the affinity purified RNAs demonstrated a specific enrichment of several reported miR-122 targets, such as CAT-1 (<xref rid=\"gkr715-B13\" ref-type=\"bibr\">13</xref>), ADAM17 (<xref rid=\"gkr715-B22\" ref-type=\"bibr\">22</xref>) and BCL-w (<xref rid=\"gkr715-B20\" ref-type=\"bibr\">20</xref>). By microarray, many candidate target genes of miR-122 were identified. We also verified that PRKRA, which showed a high of enrichment in affinity purification assay, was a new target gene of miR-122. Furthermore, the over-expression of miR-122 could facilitate the accumulation of newly synthesized miRNA.</p></sec><sec id=\"sec2\" disp-level=\"1\"><title>MATERIALS AND METHODS</title><sec id=\"sec3\" disp-level=\"2\"><title>Cell lines and cultures</title><p>HepG2 and HeLa cell lines were cultured in DMEM (GIBCO BRL, Grand Island, NY, USA) containing 10% FBS with 100 U/ml penicillin and 100 mg/ml streptomycin at 37°C with 5% CO<sub>2</sub>.</p></sec><sec id=\"sec4\" disp-level=\"2\"><title>Affinity purification experiments</title><p>To identify mRNAs associated with miRNA-122, affinity purification experiments were performed as described previously (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Figure S1</ext-link>, see <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Methods</ext-link> for details) (<xref rid=\"gkr715-B24\" ref-type=\"bibr\">24</xref>,<xref rid=\"gkr715-B25\" ref-type=\"bibr\">25</xref>). Synthetic miRNA-122 duplexes were produced carrying a biotin group attached to the 3′-end of the miRNA sense strand (TaKaRa, Dalian, China) and transfected into HepG2 cells. Cells were harvested 48 h after transfection. The isolated RNA was ready for downstream qRT–PCR or microarray analysis.</p></sec><sec id=\"sec5\" disp-level=\"2\"><title>Real-time qRT–PCR for mRNA</title><p>Total RNA was isolated using TRI Reagent (Sigma-Aldrich, St Louis, USA). cDNA was generated by reverse transcription using 1 μg of total RNA and ImProm-II<sup>TM</sup> Reverse Transcription System (Promega, Madison, WI, USA). Quantitative real-time PCR was performed on the MX 3000P<sup>TM</sup> PCR Instrument (Stratagene, La Jolla, USA) using SYBR Premix EX Taq<sup>TM</sup> (TaKaRa). Forward (F) and reverse (R) primers used were as follows: GAPDH-F 5′-tcagtggtggacctgacctg-3′, GAPDH-R 5′-tgctgtagccaaattcgttg-3′; BCL-w -F 5′-tttggttcggctttatcagg-3′, BCL-w-R 5′-gaggactgcgagttccaaag-3′; CAT-1-F 5′-ggctgtcctctggtgagaag-3′, CAT-1-R 5′-ggccaccagatcaaaagtgt-3′; ADAM-17-F 5′-ctgtggtgcaaaagcagaaa-3′, ADAM-17-R 5′-tgccaaatgcctcatattca-3′; PRKRA-F 5′-acgaatacggcatgaagacc-3′, PRKRA-R 5′-tggaagggtcaggcattaag-3′; A20-F 5′-gagagcacaatggctgaaca-3′, A20-R 5′-tccagtgtgtatcggtgcat-3′.</p></sec><sec id=\"sec6\" disp-level=\"2\"><title>Microarray hybridization</title><p>RNA from affinity purification experiments was linear amplified (Two-Cycle Eukaryotic Target Labeling Kit, P/N 900494, Affymetrix, Inc., Santa Clara, CA, USA) and analyzed on Affymetrix human u133 plus 2.0 microarrays, which include a set of human maintenance genes to facilitate the normalization and scaling of array experiments. This set of genes serves as a tool to normalize and scale the data prior to performing data comparisons.</p></sec><sec id=\"sec7\" disp-level=\"2\"><title>miRNA target site analysis</title><p>Affymetrix probe set identifiers were mapped to Ensembl transcripts using the Ensembl Biomart system. The 3′-UTR sequences were extracted from Ensembl using Biomart utilities. UltraEdit software was used to search candidate 3′-UTR for seed matches (perfect Watson–Crick matches between the 6-mer from bases 2 to 7 of the miRNA from the 5′-end) with none or one of three kinds of extensions: (i) an A across from nucleotide 1 in the miRNA (seedM+t1A), (ii) an additional match between the site and nucleotide 8 in the miRNA (seedM+m8M) and (iii), the combination of (i) and (ii) (seedM+m8M+t1A). TargetScan software (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://www.targetscan.org\" ext-link-type=\"uri\">www.targetscan.org</ext-link>) was used to search for conserved miR-122-binding sites.</p></sec><sec id=\"sec8\" disp-level=\"2\"><title>Plasmid construction</title><p>For the expression of miR-122, miR-133 or miR-30a, genomic fragment of <italic>Homo sapiens</italic> miR-122, miR-133 or miR-30a precursor was amplified and cloned into pcDNA3.0 (Invitrogen, Carlsbad, CA, USA). PRKRA 3′-UTR segment was subcloned into the pGL3 Control vector (Promega) immediately downstream of the stop codon of the luciferase gene. PCR with the appropriate primers also generated inserts with point substitutions in the miRNA complementary sites. Wild-type and mutant inserts were confirmed by sequencing.</p></sec><sec id=\"sec9\" disp-level=\"2\"><title>miRNA qRT–PCR</title><p>For miRNA detection, total RNA was polyadenylated by poly (A) polymerase (Ambion, Austin, USA). An amount of 50 μl polyadenylation reaction was set up with 10 μg total RNA and 1 μl (2U) poly (A) polymerase according to the manufacturer's protocol. After incubation at 37°C for 60 min, poly (A)-tailed total RNA was recovered by phenol/chloroform extraction and ethanol precipitation. RT reaction was performed using 1 μg poly (A) tailed total RNA and 1 μg RT primer [5′-gcgagcacagaattaatacgatcactatagg(t)<sub>18</sub>VN-3′] with 1 μl ImProm-II<sup>TM</sup> Reverse Transcriptase (Promega) according to the manufacturer's protocol. qPCR was performed as described in the method of Quantitect SYBR Green PCR Kit (Qiagen, Hilden, Germany) with Mx3000p<sup>TM</sup> (Stratagene) supplied with analytical software. One primer of miRNA amplification is miRNA specific (miR-122 5′-tggagtgtgacaatggtgtttg-3′; miR-16 5′-tagcagcacgtaaatattggcg-3′; miR-24 5′-tggctcagttcagcaggaacag-3′; miR-133 5′-tttggtccccttcaaccagctg-3′; miR-30a 5′-tgtaaacatcctcgactggaag-3′), and the other is a universal primer (5′-gcgagcacagaattaatacgac-3′). U6 snRNA levels were used for normalization (U6-F 5′-cgcttcggcagcacatatacta-3′; U6-R 5′-cgcttcacgaatttgcgtgtca-3′).</p></sec><sec id=\"sec10\" disp-level=\"2\"><title>miRNAs, small interfering RNAs and transfection</title><p>The miR-122 duplex and PRKRA small interfering RNAs (siRNAs) were designed and synthesized by GenePharma (GenePharma, Shanghai, China). The sequences of miRNA duplex and siRNAs were presented in <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S1</ext-link>. siRNAs and miRNAs were transfected using Lipofectamine 2000 (Invitrogen). In brief, cells were cultured in a six-well plate to 50% confluence. For each well, 5 μl siRNA (20 μM) or miRNA (20 μM) was added into 250 μl Opti-MEM medium (GIBCO BRL), 4 μl of Lipofectamine 2000 into 250 μl Opti-MEM medium and then mixed siRNA or miRNA with Lipofectamine 2000 after 5 min incubation. After 20 min, the mixture was added to cells and incubated for 6 h before replacing the medium. Total RNA and protein were prepared 48 or 72 h after transfection and were used for qRT–PCR or western blotting analysis.</p></sec><sec id=\"sec11\" disp-level=\"2\"><title>Western blot</title><p>Total cell lysate was prepared in 1× SDS buffer. Proteins at the same amount were separated by SDS–PAGE and transferred onto PVDF membranes. After probing with anti-PRKRA (10771-1-AP; Protein Tech Group, Inc., Chicago, USA) or anti-β-actin antibody (Beijing Zhongshan Biotechnology, Beijing, China) and incubating with proper secondary antibody, antigen–antibody complex was visualized by enhanced chemiluminescence's reagents Supersignal (Pierce, Rochford, IL, USA).</p></sec><sec id=\"sec12\" disp-level=\"2\"><title>Luciferase reporter assay</title><p>Adherent HepG2 cells were grown in DMEM with 10% FBS to 80–90% confluency in 24-well plates. Cells were co-transfected with 100 ng of <italic>firefly</italic> luciferase reporter vector containing the PRKRA 3′-UTR (named pGL3-PRKRA-3′-UTR) or PRKRA mutant (named pGL3-PRKRA-3′-UTRmut) and 8 ng of the control vector containing <italic>Renilla</italic> luciferase, pRL-TK (Promega), in a final volume of 0.5 ml using Lipofectamine 2000 (Invitrogen). <italic>Firefly</italic> and <italic>Renilla</italic> luciferase activities were measured consecutively using the Dual-luciferase assays (Promega) 48 h after transfection.</p></sec><sec id=\"sec13\" disp-level=\"2\"><title>Statistic analysis</title><p>All data are presented as means ± SD. Differences were assessed by two-tailed Student's <italic>t-</italic>test using Excel software. <italic>P &lt;</italic> 0.05 was considered to be statistically significant.</p></sec></sec><sec id=\"sec14\" disp-level=\"1\"><title>RESULTS</title><sec id=\"sec15\" disp-level=\"2\"><title>Affinity purification of miR-122 target mRNAs</title><p>To identify mRNA targets of miR-122, we employed an affinity-based target-identification procedure in which miR-122 is synthesized with a 3′-biotin group allowing for subsequent purification with streptavidin (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Figure S1</ext-link>). This technique has been previously verified for affinity purification of miRNA targets in <italic>Drosophila melanogaster</italic> cells and human neuronal cells (<xref rid=\"gkr715-B24\" ref-type=\"bibr\">24</xref>,<xref rid=\"gkr715-B25\" ref-type=\"bibr\">25</xref>). We validated the technique using a biotin-tagged miR-122 targeting several reported targets such as CAT-1 (<xref rid=\"gkr715-B13\" ref-type=\"bibr\">13</xref>), ADAM17 (<xref rid=\"gkr715-B22\" ref-type=\"bibr\">22</xref>) and BCL-w (<xref rid=\"gkr715-B20\" ref-type=\"bibr\">20</xref>). Affinity purification experiments in HepG2 cells resulted in a 2- to 19-fold enrichment of these endogenous targets (<xref rid=\"gkr715-F1\" ref-type=\"fig\">Figure 1</xref>).\n</p><fig id=\"gkr715-F1\" position=\"float\"><?disp-level 3?><label>Figure 1.</label><caption><p>Affinity purification with biotin-tagged miR-122 from human hepatoma HepG2 cells and quantitative RT–PCR for its endogenous target CAT-1, ADAM17 and BCL-w. HepG2 cells were treated with cell lysis buffer 48 h after transfection. Data were normalized to the level of GAPDH mRNA. Results of the mean of triplicate quantitative PCR assays with standard deviation of the mean are presented. *<italic>P</italic> &lt; 0.05.</p></caption><alternatives><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"image\" xlink:href=\"gkr715f1.jpg\"><?cloudpmc-path blobs/dfa9/3258128/d3b9a8b9a8f1/gkr715f1.jpg?><?cloudpmc-bucket cdn?><?image-server-status LOAD_COMPLETED?><?original-height 833?><?original-width 3500?><?scaled-height 133?><?scaled-width 560?></graphic><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"thumb\" xlink:href=\"gkr715f1.gif\"><?cloudpmc-path blobs/dfa9/3258128/d2c877c471df/gkr715f1.gif?><?cloudpmc-bucket cdn?></graphic></alternatives></fig><p>To identify more targets of miR-122, RNAs from affinity purification experiment were linear amplified and analyzed on microarrays. Microarray results showed that 1474 genes were enriched &gt;2-fold by 3′-biotin modified miR-122 (output) compared with total RNA (input) (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table 2</ext-link>). We examined the 3′-UTRs for the presence of the 6-nt sequence CACTCC, which is the reverse complement of the nucleotides 2–7 seed in the mature miR-122 sequence. About 39% of the enriched mRNAs having at least one miR-122 recognition sequence, while the seed match frequency in all annotated human 3′-UTRs was only 25%, implying that a significant pool of the enriched mRNAs correspond to direct miR-122 targets in the liver (<italic>P</italic> &lt; 0.001, <xref rid=\"gkr715-F2\" ref-type=\"fig\">Figure 2</xref>B and <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S3</ext-link>). Detailed studies indicate that the presence of extended seed matches increases the likelihood that a given message is regulated by a miRNA (<xref rid=\"gkr715-B26\" ref-type=\"bibr\">26</xref>,<xref rid=\"gkr715-B27\" ref-type=\"bibr\">27</xref>). We therefore examined the identified seed matches for the presence of an A anchor corresponding to the 5′ most nucleotide of miR-122, as well as for an extended match to base 8 of miR-122 as described by Lewis <italic>et al</italic>. (<xref rid=\"gkr715-B26\" ref-type=\"bibr\">26</xref>). Both the 7-nt and the 8-nt seed matches were significantly enriched in our microarray data (<xref rid=\"gkr715-F2\" ref-type=\"fig\">Figure 2</xref>Aand B; <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S3</ext-link>). Moreover, about one-third of the conserved targets predicted by TargetScan software showed &gt;2-fold of enrichment by biotin modified miR-122 (38 out of 124, <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S2</ext-link>).\n</p><fig id=\"gkr715-F2\" position=\"float\"><?disp-level 3?><label>Figure 2.</label><caption><p>A significant enrichment of miR-122 targets by biotin-tagged miR-122. (<bold>A</bold>) Different seed types of miR-122. (<bold>B</bold>) The occurrence of miR-122 6-, 7- or 8-nt seed sequence matches in biotin-miR-122 enriched mRNAs (grey columns) and in all human annotated genes (white columns).</p></caption><alternatives><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"image\" xlink:href=\"gkr715f2.jpg\"><?cloudpmc-path blobs/dfa9/3258128/fc8313945050/gkr715f2.jpg?><?cloudpmc-bucket cdn?><?image-server-status LOAD_COMPLETED?><?original-height 1667?><?original-width 2000?><?scaled-height 333?><?scaled-width 400?></graphic><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"thumb\" xlink:href=\"gkr715f2.gif\"><?cloudpmc-path blobs/dfa9/3258128/ff414c4bbdff/gkr715f2.gif?><?cloudpmc-bucket cdn?></graphic></alternatives></fig><p>The GO analysis revealed that the enriched genes were over represented in gene categories involved in cellular functions associated with the regulation of transcription and RNA splicing, as well as development and cell cycle (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S4</ext-link> and See <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S5</ext-link> for details).</p></sec><sec id=\"sec16\" disp-level=\"2\"><title>Interaction between miR-122 and the 3′-UTR of PRKRA mRNA</title><p>In previously mentioned affinity purification experiment, PRKRA showed a high-level enrichment (∼45-fold) and harbored one putative binding site for miR-122 in its mRNA's 3′-UTR which was conserved across various species (<xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>A). To investigate the potential miRNA:mRNA interaction, the human PRKRA 3′-UTR was subcloned after the <italic>firefly</italic> luciferase open reading frame (ORF) and cotransfected into HepG2 cells with the miR-122 duplex, which could mimic miR-122 molecule. miR-122 duplex could lead to a 60% decrease of relative luciferase activity compared with Negative Control transfected cells (<xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>B). An analogous reporter with point substitutions disrupting the target sites (as illustrated, <xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>A) was also contransfected with miR-122 duplex. There was no decrease of relative luciferase activity in miR-122 duplex transfected cells compared with Negative Control transfected cells (<xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>B).\n</p><fig id=\"gkr715-F3\" position=\"float\"><?disp-level 3?><label>Figure 3.</label><caption><p>miR-122 inhibits PRKRA expression. (<bold>A</bold> upper panel) The target site of miR-122 in PRKRA 3′-UTR is conserved among mammalian species. (<bold>A</bold> lower panel) Predicted duplex formation between miR-122 and the targeted PRKRA 3′-UTR. The PRKRA 3′-UTR mutant is identical with the wild-type except that its three point substitutions disrupting pairing to miR-122 seed. (<bold>B</bold>) pGL3-PRKRA-3′-UTR reporter plasmid in which the luciferase-coding sequence had been fused to the 3′-UTR of PRKRA was cotransfected into HepG2 cells with Negative Control (grey columns) or miR-122 duplex (white columns). Luciferase activity was normalized relative to a simultaneously transfected <italic>Renilla</italic> expression plasmid. 3′-UTR-Mut indicates the introduction of alterations into the seed complementary sites shown in <xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>A. Results of the mean of quadruplicate assays with standard deviation of the mean are presented. *<italic>P &lt;</italic> 0.05. (<bold>C</bold>) Western blots of PRKRA from HepG2 cells. Cells were transfected with Negative Control or miR-122 duplex. Cells were harvested 48 h later, and 30 μg of whole-cell lysate was added into each lane. A β-actin antibody was used in a reprobing as a loading control. (<bold>D</bold>) Real-time RT–PCR of PRKRA in HepG2 cells transfected with the Negative Control or miR-122 duplex for 48 h. Data were normalized to the level of GAPDH mRNA. Results of the mean of triplicate qPCR assays with standard deviation of the mean are presented. *<italic>P &lt;</italic> 0.05.</p></caption><alternatives><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"image\" xlink:href=\"gkr715f3.jpg\"><?cloudpmc-path blobs/dfa9/3258128/258be0b8ad65/gkr715f3.jpg?><?cloudpmc-bucket cdn?><?image-server-status LOAD_COMPLETED?><?original-height 2505?><?original-width 3900?><?scaled-height 401?><?scaled-width 624?></graphic><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"thumb\" xlink:href=\"gkr715f3.gif\"><?cloudpmc-path blobs/dfa9/3258128/d7924b1d9e9c/gkr715f3.gif?><?cloudpmc-bucket cdn?></graphic></alternatives></fig></sec><sec id=\"sec17\" disp-level=\"2\"><title>PRKRA is a potential target of miR-122</title><p>To learn whether miR-122 can affect endogenous PRKRA, we examined the impact of this miR-122 on PRKRA protein expression in cultured cells. Western blot from protein extracts obtained from the HepG2 cells revealed dramatically reduction in PRKRA protein level after miR-122 duplex transfection (<xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>C). In contrast, negative control-transfected cells showed no reduction in PRKRA protein level. Because inhibition of expression by miRNA may also be mediated by mRNA degradation (<xref rid=\"gkr715-B28\" ref-type=\"bibr\">28</xref>,<xref rid=\"gkr715-B29\" ref-type=\"bibr\">29</xref>), we examined whether the PRKRA mRNA levels might be affected by miR-122. <xref rid=\"gkr715-F3\" ref-type=\"fig\">Figure 3</xref>D showed the PRKRA mRNA level was dramatically reduced by miR-122 duplex (42% reduction). Taken together, affinity purification experiment, luciferase data, immunoassay and real-time qRT–PCR assay provided strong evidences that PRKRA is a target of miR-122.</p></sec><sec id=\"sec18\" disp-level=\"2\"><title>miR-122 facilitates accumulation of newly synthesized miRNA through downregulate PRKRA</title><p>PRKRA (PACT) cDNA was cloned by virtue of its interaction with PKR (<xref rid=\"gkr715-B30\" ref-type=\"bibr\">30</xref>). PRKRA is a human cellular protein that heterodimerizes with PKR through its double-stranded RNA-binding domains (dsRBDs) and activates PKR pathway <italic>in vitro</italic> and <italic>in vivo</italic> in the absence of dsRNA. In contrast to PRKRA, the human immunodeficiency virus transactivating response RNA-binding protein (TRBP), another dsRBD protein with 42% identity to PRKRA, has an inhibitory effect on PKR (<xref rid=\"gkr715-B31\" ref-type=\"bibr\">31</xref>). The opposite effects of PRKRA and TRBP on PKR activity are mediated by the C-terminal dsRBDs, which are devoid of detectable dsRNA-binding properties (<xref rid=\"gkr715-B31\" ref-type=\"bibr\">31</xref>). PRKRA and TRBP have been demonstrated recently to interact with RNase III Dicer, a key enzyme involving in miRNA maturation, through their C-terminal dsRBDs (<xref rid=\"gkr715-B32\" ref-type=\"bibr\">32–35</xref>). By using siRNA against TRBP, Chendrimada <italic>et al.</italic> (<xref rid=\"gkr715-B32\" ref-type=\"bibr\">32</xref>) found that TRBP knockdown reduced endogenous miRNA levels in cell culture, whereas Haase <italic>et al.</italic> (<xref rid=\"gkr715-B33\" ref-type=\"bibr\">33</xref>) saw no such reduction.</p><p>To assess the potential role of PRKRA in miRNA pathway, we transfected HeLa cells with miR-122 duplex or siRNAs against PRKRA. Via miRNA-RT–qPCR, we found the endogenous levels of miR-16 and miR-24 changed only slightly after the depletion of PRKRA (<xref rid=\"gkr715-F4\" ref-type=\"fig\">Figure 4</xref>A and B). This supports the previous observation that mature miRNA is highly stable in cells and therefore the changes in the steady-state level of mature miRNA may be difficult to detect (<xref rid=\"gkr715-B36\" ref-type=\"bibr\">36–38</xref>). Then we cotransfected miR-133 expressing vector (pcDNA3.0-miR133) with miR-122 duplex or siRNAs against PRKRA into HeLa cells. Results from miRNA-RT–qPCR indicated that miR-122 duplex, siPRKRA-1 and siPRKRA-2 could facilitate accumulation of newly synthesized miR-133 (<xref rid=\"gkr715-F4\" ref-type=\"fig\">Figure 4</xref>C). We also found that PRKRA siRNAs could also facilitate accumulation of newly synthesized miR-122 when HeLa cells were cotransfected with miR-122 expressing vector (pcDNA3.0-miR122) (<xref rid=\"gkr715-F4\" ref-type=\"fig\">Figure 4</xref>D). Similar results were observed in HepG2 cell line (data not shown). To monitor PKR activity, we analysis the expression of Tnfaip3 (A20) which could be induced by PKR activation through NF-κB pathway (<xref rid=\"gkr715-B39\" ref-type=\"bibr\">39</xref>,<xref rid=\"gkr715-B40\" ref-type=\"bibr\">40</xref>). Real time qRT–PCR results showed that downregulation of PRKRA by siRNA has no effect on A20 expression (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Figure S3</ext-link>). Our findings that PRKRA knockdown facilitated accumulation of newly synthesized miRNA support the hypothesis that PRKRA and TRBP have opposite effects on miRNA maturation just like the situation in PKR pathway (<xref rid=\"gkr715-F5\" ref-type=\"fig\">Figure 5</xref>).\n\n</p><fig id=\"gkr715-F4\" position=\"float\"><?disp-level 3?><label>Figure 4.</label><caption><p>miR-122 facilitates the accumulation of newly synthesized miRNA through regulating PRKRA. (<bold>A</bold> and <bold>B</bold>) miRNA-RT–qPCR detected the expression of miR-16 and miR-24. HeLa cells were transfected with the Negative Control siRNA, miR-122 duplex, siPRKRA-1 or siPRKRA-2 for 48 h. (<bold>C</bold>) miRNA-RT–qPCR detected the expression of miR-133. HeLa cells were cotransfected with miR-133 expressing vector (pcDNA3.0-miR133) and Negative Control siRNA, miR-122 duplex, siPRKRA-1 or siPRKRA-2 for 48 h. (<bold>D</bold>) The same experiment as described in (C), except for cotransfecting HeLa cells with miR-122 expressing vector (pcDNA3.0-miR122) and Negative Control siRNA, siPRKRA-1 or siPRKRA-2 for 48 h. Total RNA was poly-A tailed, reverse transcripted and then real-time PCR tested. Data were normalized to the level of U6 RNA. Results of the mean of triplicate quantitative PCR assays with standard deviation of the mean are presented.</p></caption><alternatives><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"image\" xlink:href=\"gkr715f4.jpg\"><?cloudpmc-path blobs/dfa9/3258128/fabc43a1b2c4/gkr715f4.jpg?><?cloudpmc-bucket cdn?><?image-server-status LOAD_COMPLETED?><?original-height 2412?><?original-width 4000?><?scaled-height 386?><?scaled-width 640?></graphic><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"thumb\" xlink:href=\"gkr715f4.gif\"><?cloudpmc-path blobs/dfa9/3258128/13781fc6a4fd/gkr715f4.gif?><?cloudpmc-bucket cdn?></graphic></alternatives></fig><fig id=\"gkr715-F5\" position=\"float\"><?disp-level 3?><label>Figure 5.</label><caption><p>The regulation of miRNA maturation and PKR pathway by TRBP and PRKRA. PRKRA and TRBP involved in the regulation of PKR pathway and the maturation of miRNAs through interacting with PKR or Dicer, respectively.</p></caption><alternatives><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"image\" xlink:href=\"gkr715f5.jpg\"><?cloudpmc-path blobs/dfa9/3258128/9ba65c6cf50a/gkr715f5.jpg?><?cloudpmc-bucket cdn?><?image-server-status LOAD_COMPLETED?><?original-height 1754?><?original-width 1500?><?scaled-height 585?><?scaled-width 500?></graphic><graphic xmlns:xlink=\"http://www.w3.org/1999/xlink\" content-type=\"thumb\" xlink:href=\"gkr715f5.gif\"><?cloudpmc-path blobs/dfa9/3258128/b90c1576345d/gkr715f5.gif?><?cloudpmc-bucket cdn?></graphic></alternatives></fig></sec></sec><sec id=\"sec19\" disp-level=\"1\"><title>DISCUSSION</title><p>The present study shows that PRKRA could be enriched by 3′-biotin modified miR-122. It is also shown that PRKRA is negatively regulated by miR-122 via a specific target site within the 3′-UTR. Moreover, we showed that miR-122 facilitates accumulation of newly synthesized miRNA through downregulating PRKRA expression. The identification of miR-122 as an important regulator of miRNA maturation emphasizes an essential role of this liver-specific miRNA.</p><p>Sophisticated mechanisms regulating RNA may explain the gap between the great complexity of cellular functions and the limited number of primary transcripts. Regulation by miRNAs underscores this possibility, as each miRNA is believed to bind directly to many mRNAs to regulate their translation or stability and thereby control a wide range of activities. Despite their biological importance, determining the targets of miRNAs is a major challenge. Attention has largely been laid on computational predictions of targets based on the observation that many miRNAs can recognize their targets by binding to motifs in the 3′-UTR sequences complementary to bases 2–8 of the miRNA (the seed region) (<xref rid=\"gkr715-B41\" ref-type=\"bibr\">41</xref>). Whereas these algorithms have been instrumental in many studies of individual miRNA:mRNA interactions, unbiased approaches to study miRNA target recognition are important to discover new features of miRNAs. In this study, we used a direct affinity-based procedure to isolate target mRNAs bound by miR-122. These results will help us to understand the function of this liver-specific miRNA. While preparing this manuscript one group has published a paper demonstrating miR-122 targeting CUTL1 (CUX1) during liver development, which is also enriched by biotin-tagged miR-122 (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Table S2</ext-link>) (<xref rid=\"gkr715-B42\" ref-type=\"bibr\">42</xref>).</p><p>The affinity-based target-identification procedure was performed following Orom <italic>et al.</italic> (<xref rid=\"gkr715-B24\" ref-type=\"bibr\">24</xref>,<xref rid=\"gkr715-B25\" ref-type=\"bibr\">25</xref>) with some modification. The non-specific binding of RNAs to streptavidin–agarose beads was unavoidable even we washed the beads four times with cell lysis buffer. Therefore, GAPDH with no putative target site of miR-122 was chosen to serve as an internal control. If one gene is the target of miR-122, the output would contain more mRNA/GAPDH than the Input. To validate our results, we also normalize mRNA with β-actin (no putative target site of miR-122 in its 3′-UTR). Results from real-time PCR showed that miR-122's known target gene had enrichment in Ouput when normalized to GAPDH or β-actin (<xref rid=\"gkr715-F1\" ref-type=\"fig\">Figure 1</xref> and <ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Figure S4</ext-link>).</p><p>miRNAs are generated by a two-step processing pathway. Primary miRNAs are processed to pre-miRNAs by Drosha. These pre-miRNAs are cleaved by Dicer to generate mature miRNAs (<xref rid=\"gkr715-B43\" ref-type=\"bibr\">43–45</xref>). In human cells, Drosha exists as part of a protein complex called the Microprocessor complex, which contains the dsRNA-binding protein DGCR8 (also called Pasha). DGCR8 is essential for Drosha activity and capable of binding single-stranded fragments of the pri-miRNA that are required for proper processing (<xref rid=\"gkr715-B46\" ref-type=\"bibr\">46</xref>,<xref rid=\"gkr715-B47\" ref-type=\"bibr\">47</xref>). Dicer also exists as part of a protein complex which contains two dsRNA-binding proteins, TRBP and PRKRA (<xref rid=\"gkr715-B32\" ref-type=\"bibr\">32–35</xref>). It was reported that TRBP knockdown reduced endogenous miRNA levels in cell culture (<xref rid=\"gkr715-B32\" ref-type=\"bibr\">32</xref>). Here, we found that PRKRA knockdown by miR-122 duplex or siRNAs against PRKRA could facilitate accumulation of newly synthesized miRNA. Thus dsRNA-binding protein such as DGCR8, TRBP and PRKRA could affect the miRNAs processing pathway by interacting with Drosha or Dicer.</p><p>However, our finding that PRKRA is a negative regulator of miRNA processing is in direct conflict with the finding of Lee <italic>et al</italic>. (<xref rid=\"gkr715-B34\" ref-type=\"bibr\">34</xref>). They demonstrated that the reduction of PRKRA protein results in reduced miRNA accumulation. The contradictory results probably reflect the different methodologies. Lee <italic>et al.</italic> depleted PRKRA by RNAi from a HeLa cell line that expresses pri-miR-30a from the tetracycline-inducible promoter. After incubation with siRNA, the cell line was exposed to doxycycline, the derivative of tetracycline, for induction of pri-miR-30a. By using northern blotting on miR-30a, they found that reduction of PRKRA protein levels results in reduced miRNA accumulation. While we co-transfected siRNA and miRNA-expressing vector into HeLa cell line. By using miRNA quantitative-RT–PCR, we found that PRKRA siRNAs could facilitate the accumulation of miRNA. Moreover, we co-transfected PRKRA siRNAs and miR-30a-expressing vector (the specific miRNA investigated by Lee <italic>et al.</italic>) into HeLa cell line. Forty-eight hours after transfection, we employed miRNA quantitative-RT–PCR to detect miR-30a expression and found that PRKRA siRNAs could also facilitate the accumulation of miR-30a (<ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Figure S5</ext-link>).</p><p>An interesting paradox exists between TRBP and PRKRA, which shares 42% amino acid sequence identity. TRBP inhibits the dsRNA-activated PKR, whereas PRKRA activates this protein—both using their C-terminal domains for these functions (<xref rid=\"gkr715-B31\" ref-type=\"bibr\">31</xref>). TRBP and PRKRA could interact with Dicer, raising the intriguing possibility that TRBP and PRKRA modulate PKR differentially in response to dsRNAs in the cytoplasm. For instance, it would be disadvantageous to the cell to have miRNA precursors activating PKR, as this may ultimately lead to cell death. Thus, our findings suggest that TRBP and PRKRA might be responsible for keeping the balance between PKR pathway and pre-miRNA processing (<xref rid=\"gkr715-F5\" ref-type=\"fig\">Figure 5</xref>).</p><p>In conclusion, miR-122, a hepato-specific miRNA, inhibits the expression of Dicer-interacting PRKRA gene by binding to the 3′-UTR of PRKRA mRNA and thereby facilitates the accumulation of newly synthesized miRNA.</p></sec><sec id=\"sec20\" disp-level=\"1\"><title>SUPPLEMENTARY DATA</title><p><ext-link xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"http://nar.oxfordjournals.org/cgi/content/full/gkr715/DC1\" ext-link-type=\"uri\">Supplementary Data</ext-link> are available at NAR Online: Supplementary material, Supplementary tables, Supplementary figures 1–5.</p></sec><sec id=\"sec21\" disp-level=\"1\"><title>FUNDING</title><p>Chinese State Key Projects for Basic Research (2010CB912801, 2007CB914601); partially by grants from Chinese Key Project for the Infectious Diseases (2008ZX10002-016); and Chinese National Natural Science Foundation (30870529, 30873008). Funding for open access charge: Chinese State Key Projects for Basic Research (2010CB912801).</p><p><italic>Conflict of interest statement</italic>. None declared.</p></sec><sec id=\"sec22\" disp-level=\"1\"><title>Supplementary Material</title><supplementary-material id=\"PMC_1\" position=\"float\"><?disp-level 2?><caption><title>Supplementary Data</title></caption><media xmlns:xlink=\"http://www.w3.org/1999/xlink\" xlink:href=\"supp_40_2_884__index.html\" mimetype=\"text\" mime-subtype=\"html\"><?cloudpmc-path dfa9/3258128/f9dfddd00dbe/supp_40_2_884__index.html?><?cloudpmc-bucket app?><?size 1185?></media></supplementary-material></sec><sec id=\"ref-list1\" sec-type=\"ref-list\" disp-level=\"1\"><title>REFERENCES</title><sec id=\"ref-list1_sec2\" disp-level=\"2\"><ref-list><ref id=\"gkr715-B1\"><label>1.</label><mixed-citation><named-content content-type=\"citation-string\">Bartel DP. MicroRNAs: genomics, biogenesis, mechanism, and function. 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                          "doi": "10.3030/101231026",
                          "type": "Consolidator Grant",
                          "alias": "101231026",
                          "title": "Evolution of Mechanisms for Sex Chromosome Dosage Compensation and Gene Regulation (EMERGE)",
                          "amount": 1999177,
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                            "name": "European Research Council",
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                          "abstract": "There is a remarkable diversity of phenotypes among multicellular animals, including differences between males and females. A major driver of phenotypic variation stems from differences in gene regulation. The evolution of these regulatory mechanisms is a central, yet unresolved question in biology. Sex chromosome dosage compensation (SCDC) is an epigenetic process that equalizes sex chromosomal gene expression between males and females. EMERGE uses SCDC as a model to uncover how and why epigenetic mechanisms evolve and function across animals. We will employ a taxonomic gradient from (1) molecular studies in malaria mosquitos to (2) comparative mechanistic analyses across multiple insects, and finally to (3) a broad investigation across all animal clades. First, we will determine how a novel SCDC pathway in malaria mosquitos evolved to specifically regulate the X chromosome. To achieve this, we will use heterologous expressions, alongside in vitro biochemistry and proximity proteomics. Second, we will assess the physiological relevance of SCDC to determine why its absence is lethal in only certain contexts and species. We will test how proteome homeostasis, transcriptional noise, and critical genes influence essentiality. Third, we will explore the diversity of SCDC mechanisms across dozens of animal species with heteromorphic sex chromosomes, including unexplored phyla such as Cnidaria or Mollusca. Employing microscopy, transcriptomics, proteomics, and epigenome profiling, we will study SCDC patterns, conserved and lineage-specific adaptations, as well as regulatory mechanisms. Our findings are expected to reveal general principles of how chromatin controls gene expression, responds to dosage imbalances, and evolves across the animal tree of life. By comprehensively investigating both sexes, EMERGE will at the same time shed light on the regulatory and physiological differences between males and females, a heavily overlooked aspect in research and healthcare.",
                          "category": "Horizon Europe",
                          "currency": "EUR",
                          "startDate": "2026-08-01",
                          "abstractType": "scientific",
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                          "title": "Dr",
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                          "givenName": "Claudia",
                          "familyName": "Keller Valsecchi"
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                          "title": "Mining the Cryptosporidium kinome: using kinobead technology to reveal novel biology and potential therapeutic targets",
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                          "stream": "MRC: Apr 2025: research: infections and immunity: responsive mode",
                          "endDate": null,
                          "grantId": "UKRI3660",
                          "abstract": "Diarrhoeal disease is a leading cause of morbidity and mortality for young children. The WHO estimates that 10% of the deaths of children under the age of five globally are due to diarrheal disease. In 2013 the Global Enteric Multicentre Study identified the pathogens responsible for deadly diarrhoeal disease. Surprisingly, cryptosporidiosis caused by infection with Cryptosporidium parasites, was revealed as second only to Rotavirus in causing deadly disease. Diarrhoea from cryptosporidiosis is severe, but self-limiting in immune-competent people. However, for young, malnourished children and the immunocompromised, the disease can be fatal. Annually there are an estimated 7.5 million cases of cryptosporidiosis, resulting in >200,000 deaths. Recurrent diarrhoeal episodes associated with cryptosporidiosis alters gut morphology, leading to growth stunting, delayed development, and impaired cognitive function. The greatest impact of the disease occurs in Low and Middle-Income Countries. However, waterborne outbreaks threaten public health in High-Income Countries including the USA and UK. Waterborne outbreaks also carry significant economic impact. Unfortunately, there is no vaccine and no effective treatment for cryptosporidiosis. New drugs are desperately needed. Phosphorylation, the addition of a phosphate group to a molecule or protein, is mediated by kinases. Kinases are key regulators of cell signalling and play a crucial role in modulating almost all cellular events. Therefore, it is no surprise that kinase inhibitors have become one of the pharmaceutical industry’s most important drug target classes with ~30% of drug discovery efforts worldwide directed at the kinase superfamily. Despite the fact that little is known about the function of kinases in Cryptosporidium, they are gaining traction as exploitable drug targets. The two compounds currently in development for cryptosporidiosis specifically target kinases. In addition, compounds known to inhibit kinases kill Cryptosporidium parasites, although the details about how the compounds do this are unknown. In order to leverage these promising compounds as treatments for cryptosporidiosis, it is critical to identify which specific kinase, or kinases they target (Cryptosporidium have >100 kinases). This information will strengthen current drug discovery projects and help initiate new ones. Unfortunately, many of the tools and reagents available to identify the targets of kinase inhibitors are optimised for human kinases and are considerably less effective for the study of kinases in other organisms. Similarly, compared to other related parasites, like Plasmodium and Toxoplasma (which cause malaria and toxoplasmosis respectively), our understanding of the basic biology of Cryptosporidium is limited. To address this knowledge gap, we will adopt an interdisciplinary approach that combines chemistry, proteomics (the study of proteins), biology, and genetics. To better understand the role of kinases in Cryptosporidium biology we will: 1] develop Cryptosporidium-centric chemical tools; 2] use these tools, in combination with proteomics, to identify the protein targets of kinase inhibitors capable of killing Cryptosporidium parasites and 3] interrogate the biology and function(s) of these biologically significant Cryptosporidium kinases. This research will improve our fundamental understanding of Cryptosporidium biology and will lay the foundations for the future exploitation of kinases for anti-cryptosporidial drug discovery. Effective drugs for cryptosporidiosis will lead to improvements to the health and welfare of children and immune-compromised patients world-wide.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-06-30",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": null,
                          "initials": "SW",
                          "givenName": "Susan",
                          "familyName": "Wyllie"
                        },
                        "institution": {
                          "name": "University of Dundee",
                          "rorId": "03h2bxq36",
                          "department": null,
                          "officialName": "University of Dundee"
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Discretionary Award",
                          "alias": [
                            "351995",
                            "351995/Z/26/Z"
                          ],
                          "title": "Establishment of Climate and Health Science and Policy Consortium in Eastern Africa",
                          "amount": 20000,
                          "funder": {
                            "name": "Wellcome Trust",
                            "fundRefId": "https://doi.org/10.13039/100010269",
                            "searchTerm": "Wellcome Trust"
                          },
                          "stream": "Population and Public Health",
                          "endDate": "2026-10-14",
                          "grantId": "351995",
                          "abstract": "Climate change is already intensifying health risks across Eastern Africa. The 2020–2022 Horn of Africa drought left more than 30 million people in Ethiopia, Kenya and Somalia facing drought-related food insecurity, and climate change is projected to cause 123 million additional malaria cases and 532,000 additional malaria deaths across Africa between 2024 and 2050. These risks intersect with climate-sensitive livelihoods, food and water insecurity, population mobility, fragile infrastructure and uneven adaptive capacity, increasing vulnerability across the region. However, Eastern Africa’s climate- health response remains constrained by a critical systems gap: fragmented research, weak cross-sector coordination, uneven technical capacity, limited community and policy engagement, and inadequate mechanisms for translating evidence into decisions and practice. This proposal development grant will address this gap by supporting the co-design of an African-led Climate and Health Science and Policy Consortium in Eastern Africa, led by Ifakara Health Institute. The grant will support country and stakeholder mapping, partner consultations, priority-setting, governance design, capacity strengthening, sustainability planning and collaborative proposal writing. The outcome will be a credible regional consortium capable of generating policy-relevant evidence, strengthening regional capacity, supporting evidence-informed decision-making and enabling practical climate-health action. Keywords: climate change; health; Eastern Africa; science-policy consortium; capacity strengthening.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-06-15",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": "Dr",
                          "initials": "HM",
                          "givenName": "Honorati",
                          "familyName": "Masanja"
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                        "institution": {
                          "name": "Ifakara Health Institute",
                          "rorId": "04js17g72",
                          "department": null,
                          "officialName": "Ifakara Health Institute"
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Early-Career Award",
                          "alias": [
                            "324519",
                            "324519/Z/25/Z"
                          ],
                          "title": "Mechanisms of Emergence and Spread of Artemisinin and MultiDrug Resistance (AMRED) Malaria Parasites in West Africa",
                          "amount": 1067792.92,
                          "funder": {
                            "name": "Wellcome Trust",
                            "fundRefId": "https://doi.org/10.13039/100010269",
                            "searchTerm": "Wellcome Trust"
                          },
                          "stream": "Genetics and Genomics",
                          "endDate": "2031-05-15",
                          "grantId": "324519",
                          "abstract": "The recent emergence and spread of artemisinin resistant Plasmodium falciparum parasites in Africa pose grave threats to control/elimination programs utilising artemisinin combination therapies (ACTs), the last stronghold for malaria treatments. Over 10 mutations in the parasite’s Kelch 13 gene, K13, have been associated with artemisinin resistance in Africa; particularly, West African parasites harbouring K13 resistant markers also show reduced ex vivo susceptibility to artemisinin. The typical high parasite transmission/recombination rates in West African parasites could rapidly expand these resistant markers on diverse genetic backgrounds, associated with multidrug resistance to partner drugs, and the former first-line treatments, chloroquine and sulphadoxine-pyrimethamine. We are not well equipped, and lack critical knowledge in the evolutionary mechanisms underlying the emergence/spread of these resistant markers, to forestall containment measures in West Africa; how do artemisinin- and multidrug resistant (AMRED) marker combinations influence heterogenous susceptibilities to ACTs in contemporary infections? This study aims to investigate these questions in Ghana, a low- high transmission setting, with ideal parasite populations that harbour resistance markers to most antimalarials. It will innovate genetic tools and approaches to unravel the complexity in resistance evolution and build local capacity in functional genetics studies to detect, track and stop artemisinin resistance.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-05-15",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": "Dr",
                          "initials": "CA",
                          "givenName": "Charles",
                          "familyName": "Narh"
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                        "institution": {
                          "name": "University of Ghana",
                          "rorId": "01r22mr83",
                          "department": null,
                          "officialName": "University of Ghana"
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Fellowship",
                          "alias": "UKRI3394",
                          "title": "Advancing epidemiological methods for evaluation of malaria vaccine effectiveness and impact",
                          "amount": 1848767,
                          "funder": {
                            "name": "Medical Research Council",
                            "fundRefId": "https://doi.org/10.13039/501100000265",
                            "searchTerm": "Medical Research Council"
                          },
                          "stream": "MRC: Apr 2025: career development award",
                          "endDate": null,
                          "grantId": "UKRI3394",
                          "abstract": "Each year, malaria kills nearly half a million children in sub-Sharan Africa. Currently, several effective malaria control interventions including chemoprevention and insecticide-treated nets are implemented across the region. Recently, World Health Organisation recommended the introduction of two novel malaria vaccines, administered in a four-dose schedule. The Malaria Vaccine Implementation Pilot study in Ghana, Kenya, and Malawi showed that coverage was relatively high for the first three doses(63-75%) among vaccine-eligible children, but only 40% received the fourth dose. As of 2025, seventeen countries have introduced these vaccines as part of their national childhood immunisation program using either age-based or pre-transmission season schedules. While many countries follow the four-dose regimen with or without malaria chemoprevention, others like Mali have opted for a five-dose schedule. Since the protective efficacy of these vaccines declines gradually over time; continuous monitoring is essential to optimise their long-term impact. This calls for methodological advancement to assess how the vaccines, in combination with other malaria interventions, perform when deployed at scale and their impact at the population level. This project aims to develop and evaluate novel epidemiological methods for measuring the effectiveness of malaria control interventions rapidly and cost-effectively. It will specifically measure the effectiveness and impact of the malaria vaccines implemented through national immunisation programs. The specific aims and objectives are: Aim 1: Develop and validate novel methods tor evaluate malaria vaccine effectiveness using a test-negative case-control design. 1.1 Replicate the efficacy of malaria vaccines, as reported in randomised controlled trials using a test-negative case-control study design applied to the clinical trial data. 1.2 To develop methods to detect, minimise, and quantify biases when estimating vaccine effectiveness using a test-negative design in routinely collected clinical data. Aim 2: Evaluate the effectiveness of malaria vaccines when delivered through the routine immunisation programs. 2.1 Measure the effectiveness of the malaria vaccines delivered through routine systems with or without chemoprevention, and assess how effectiveness varies with age-based versus season-based schedules, intervals between doses, and the use of seasonal malaria chemoprevention. 2.2 Assess the protection against clinical malaria provided by the fourth and fifth doses. Aim 3: Evaluate the population-level impact of malaria vaccines when implemented at scale through national immunisation programs. 3.1 Measure the impact of the malaria vaccination program on malaria burden, all-cause mortality, and uptake of other malaria interventions and childhood vaccines. 3.2 Adapt mathematical models to simulate the impact of the vaccination program on malaria burden, using vaccine effectiveness and coverage measured in routinely collected data. 3.3 Investigate the impact of climatic factors on the spatial and temporal distribution of malaria burden. The project will use existing clinical trial data collected over 15 years, Monte Carlo simulations, prospective studies in Burkina Faso, Guinea, and Mali, data from the routine surveillance system, and mathematical modelling. To support implementation of these methods, I and my team will develop user-friendly software tools and guidelines and establish a vaccine effectiveness consortium across several African countries. This work will inform optimum strategies for monitoring malaria vaccines effectiveness, and broader public heath impact. It will also help identify factors influencing vaccine effectiveness and impact, and generate evidence to guide policy decision on the best combinations of vaccination schedule and doses, ultimately improving health outcomes for children and maximising value for money. Furthermore, the methods can be applied to evaluate effectiveness of other vaccines.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-05-01",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": null,
                          "initials": "MA",
                          "givenName": "M Sanni",
                          "familyName": "Ali"
                        },
                        "institution": {
                          "name": "London School of Hygiene and Tropical Medicine",
                          "rorId": "00a0jsq62",
                          "department": null,
                          "officialName": "London School of Hygiene & Tropical Medicine"
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Career Development Award",
                          "alias": [
                            "328051",
                            "328051/Z/25/Z"
                          ],
                          "title": "Spatio-clinal distribution of Microsporidia MB and assessing thermal fitness of its transmission, modulation of Plasmodium refractoriness and its impact on the efficacy of malaria vectors control tools",
                          "amount": 603989,
                          "funder": {
                            "name": "Wellcome Trust",
                            "fundRefId": "https://doi.org/10.13039/100010269",
                            "searchTerm": "Wellcome Trust"
                          },
                          "stream": "Pathogen Biology and Disease Transmission",
                          "endDate": "2031-03-31",
                          "grantId": "328051",
                          "abstract": "The discovery of Microsporidia MB (herafter MB), a promising biological agent which inhibits Plasmodium development in malaria vectors has opened another door for malaria control, which if properly exploited may prove as successful as Wolbachia and Bacillus thuringiensis, which are used worldwide for control of mosquito vectors. This is crucially important because, unlike chemical insecticides, biological control agents are more environmentally friendly and less susceptible to resistance. However, information about the frequency of MB in the major malaria vectors Anopheles gambiae s.s. and An. coluzzii is still lacking. Also, it remains to be known how environmental variables, such as temperature and humidity impact the fitness of MB in the field. This study aims to map the prevalence of MB along ecological gradients of increasing aridity, spanning Nigeria and Niger Republic, investigate the impact of temperature on MB survival and effectiveness in blocking Plasmodium transmission, and explore its potential modulation of insecticide resistance in malaria mosquitoes. By generating primary data on the environmental resilience of MB and its interaction with insecticides, this study will provide critical insights into the feasibility of sustainably integrating this biological agent into existing vector control programs, potentially revolutionizing malaria vector control in regions heavily affected.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-04-01",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": "Dr",
                          "initials": "L",
                          "givenName": "Lamine",
                          "familyName": "Mahaman Moustapha"
                        },
                        "institution": {
                          "name": "Université André Salifou",
                          "rorId": null,
                          "department": null,
                          "officialName": null
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Research Grant",
                          "alias": "UKRI3658",
                          "title": "MKP1 modulating host defence: pathogen-specific innate immune regulation",
                          "amount": 1005469,
                          "funder": {
                            "name": "Medical Research Council",
                            "fundRefId": "https://doi.org/10.13039/501100000265",
                            "searchTerm": "Medical Research Council"
                          },
                          "stream": "MRC: Apr 2025: research: infections and immunity: responsive mode",
                          "endDate": null,
                          "grantId": "UKRI3658",
                          "abstract": "Mitogen-activated protein kinase (MAPK) phosphatase 1 (MKP1) plays a crucial role in the regulation of immune responses and the body’s defence mechanisms against infections. MKP1 is involved in modulating the activity of MAPKs, which are vital for transducing signals from microbial pathogens. During infection, MKP1 acts as a ‘regulatory brake’ on the inflammatory response, as excessive or prolonged inflammation can lead to tissue damage and chronic inflammatory diseases. MKP1 fine-tune’s this response by deactivating MAPKs, thereby reducing the production of pro-inflammatory cytokines. This action is critical for preventing tissue damage and promoting resolution of inflammation, demonstrating a dual role for MKP1 in infections acting as a critical modulator of the immune response. While the functional role of MKP1 has been studied in bacterial infections, no studies have investigated its role in fungal infections. Fungi kill ~2.5 million individuals each year, five times more than malaria or influenza, and are deadlier than most bacterial infections. Candida spp. cause ~1 million deaths from invasive/bloodstream infections and >150 million mucosal infections annually. As such, Candida infections are a serious medical problem and an immense burden to human health. Given this, the World health Organisation recently cited C. albicans in the ‘critical’ group (highest) in the ‘fungal priority pathogens’ list. Thus, identifying biological and immunological mechanisms that advance our understanding of C. albicans infection and lead to disease prevention is now a recognised priority. MKP1 is strongly activated in epithelial cells and neutrophils during C. albicans infection. Importantly, using a MKP1 knockout (KO) mouse, MKP1 deletion resulted in protection against mucosal and systemic C. albicans infection. These findings are in stark contrast to bacterial studies, where the MKP1 KO dramatically increases morbidity and mortality. This dichotomy between fungal and bacterial responses is highly intriguing and highlights the complexity of MKP1's role in immune regulation. Therefore, our objectives are twofold. First, to determine why MKP1 deletion is protective in fungal disease but detrimental in bacterial disease. Second, to determine the cell-type specific functional role of MKP1 in C. albicans infection, which will reveal new mechanisms by which fungal diseases outcome could be improved through targeted immunostimulatory therapy. The work will considerably enhance our understanding of immune regulation during fungal and bacterial infection and will identify new therapeutic opportunities that may arise from manipulating MKP1 pathways to improve microbial infection resolution, especially as adjunctive therapy during antimicrobial resistance. This work will have multiple academic beneficiaries in the fields of general and innate immunology, fungal and bacterial pathogenesis, cellular signalling, and host-pathogen interactions. An integral part of this research proposal involves the creation of conditional MKP1 knockout mouse models, which will create invaluable and powerful research tools that will enhance the impact and significance of this research proposal and be of considerable value to the wider scientific community (broader ranging infection studies, immunology, MAPK biology). In addition, this proposal has potential commercial beneficiaries, as our findings could be exploited at several levels in the longer term to improve human health and quality of life.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-02-03",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": null,
                          "initials": "JN",
                          "givenName": "Julian",
                          "familyName": "Naglik"
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                        "institution": {
                          "name": "King's College London",
                          "rorId": "ror.org/0220mzb33",
                          "department": null,
                          "officialName": null
                        }
                      },
                      {
                        "grant": {
                          "doi": null,
                          "type": "Early-Career Award",
                          "alias": "324238",
                          "title": "Vertical and horizontal transmission mechanisms of a Plasmodium-blocking symbiont in Anopheles mosquitoes",
                          "amount": 818363.49,
                          "funder": {
                            "name": "Wellcome Trust",
                            "fundRefId": "https://doi.org/10.13039/100010269",
                            "searchTerm": "Wellcome Trust"
                          },
                          "stream": "Pathogen Biology and Disease Transmission",
                          "endDate": "2031-01-31",
                          "grantId": "324238",
                          "abstract": "Microsporidia MB, a symbiont that inhibits Plasmodium transmission in An. arabiensis, has the potential to be developed into a transformative symbiont- based malaria control strategy. It spreads naturally through vector populations via vertical (mother-to-offspring) and horizontal (sexual) transmission. However, our previous research has demonstrated inefficiencies in these transmission routes, which can limit its application as a malaria control tool. In the proposed study, the mechanistic basis of variations in vertical transmission rates will be investigated by determining symbiont infection dynamics across mosquito developmental stages. Also, horizontal transmission mechanisms will be assessed by determining how Microsporidia MB is transmitted during mating. To achieve these aims, high-resolution microscopy imaging will be applied to track Microsporidia MB’s interaction with An. arabiensis at the tissue and cellular level. Host and symbiont factors mediating or inhibiting symbiont colonization and transmission will be investigated using gene expression studies while symbiont transmission efficiencies will be assessed using experimental bioassays. Understanding vertical and horizontal transmission mechanisms and efficiencies of Microsporidia MB will establish the stability of Microsporidia MB infections, determine the specificity of host-symbiont interactions, and establish transmission bottlenecks. This knowledge will be the foundation for developing optimized Microsporidia MB-Anopheles symbioses for deployment as a novel malaria control strategy.",
                          "category": null,
                          "currency": "GBP",
                          "startDate": "2026-02-01",
                          "abstractType": "scientific",
                          "abstractLanguage": "en"
                        },
                        "person": {
                          "orcid": null,
                          "title": "Dr",
                          "initials": "TO",
                          "givenName": "Thomas",
                          "familyName": "Onchuru"
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                        "institution": {
                          "name": "International Centre of Insect Physiology and Ecology",
                          "rorId": "03qegss47",
                          "department": null,
                          "officialName": "International Centre of Insect Physiology and Ecology"
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                        "doi": "10.33024/jkm.v8i4.7464",
                        "year": 2022,
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                        "title": "Knowledge And Attitude Of Pregnant Women About Malaria With Behavior To Seek Malaria Treatment",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Pasnel Parna Wemy Gultom",
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                          {
                            "name": "Jenie Palupi",
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                        "abstract": "Belakang: Papua merupakan daerah endemik malaria dengan tingginya kasus malaria pada anak balita dan ibu hamil. Namun, kurangnya sosialisasi dan minat mencari tahu tentang malaria dan cara pengobatannya membuat penyakit malaria masih dianggap sebagai penyakit yang biasa oleh masyarakat di wilayah endemis malaria. Kasus malaria secara global mencapai 219 juta pada tahun 2017, dengan 435.000 kasus dikaitkan dengan malaria, di Indonesia, Profil Kesehatan Kabupaten Sarmi tahun 2017, 31.068 kasus pasien malaria. Kabupaten Sarmi kasus ibu hamil yang terinfeksi Malaria pada tahun 2010 sebanyak 260 orang (1,5% ) dengan jumlah penduduk 41.515 jiwa.Tujuan: Studi ini dilakukan untuk mengetahui hubungan pengetahuan dan sikap tentang malaria dengan perilaku ibu hamil untuk mencari pengobatan malaria dalam kehamilan di Puskesmas Samanente Kabupaten Sarmi.Metode: yang digunakan dalam penelitian ini yaitu metode analitik korelasional dengan pendekatan desain penelitian cross-sectional dengan menggunakan teknik simple random sampling sebanyak 30 orang. Instrumen penelitian yang digunakan yaitu menggunakan kuesioner. population in this study 30 people, this research used sampling technique Total Sampling with sampling 30 people. Inclusion criteria on this research is Willing to be a respondent, Mothers who are pregnant and currently or have suffered from malaria, Can read and write. Criteria exclusions in this study are Pregnant women who are sick at the time of the study, Pregnant women with Auto Immune, Pregnant women with pregnancy complicationsHasil: didapatkan responden dengan pengetahuan sedang yang tidak memiliki kebiasaan berobat malaria pada kehamilan adalah 56,3% dan kelompok responden dengan pengetahuan baik yang tidak memiliki kebiasaan berobat malaria pada kehamilan adalah 71,4%. Hal ini menunjukkan bahwa semakin tinggi tingkat informasi dapat meningkatkan proporsi perilaku tidak mencari pengobatan malaria selama kehamilan yaitu sebesar 15,1%. Hasil analisis menunjukkan bahwa tidak ada hubungan antara tingkat pengetahuan dan perilaku ibu hamil dalam mencari pengobatan malaria (P > 0.05). Ada hubungan antara sikap ibu hamil tentang malaria dan perilaku ibu hamil dalam mencari pengobatan malaria (P < 0.05). Kesimpulan: Meningkatnya pengetahuan dapat meningkatkan kesadaran ibu tentang penyakit malaria dan sikap yang baik dapat meningkatkan kewaspadaan terhadap penyakit malaria.Saran: menganjurkan ibu hamil untuk rutin melakukan kunjungan kehamilannya di Puskesmas agar dapat meningkatkan pengetahuan dan sikap tentang malaria dengan perilaku mencari pengobatan malaria dalam kehamilan. Kata Kunci : Malaria dalam kehamilan Pengetahuan, Pengobatan malaria sikap dan perilaku, ABSTRACT Background: Papua is a malaria endemic area with high malaria cases among children under five years and pregnant women. However, the lack of socialization and interest in finding out about malaria and how to medicate it makes malaria still considered a common disease by the people in malaria endemic areas. Malaria cases globally reached 219 million in 2017, with 435,000 cases attributed to malaria, in Indonesia, the Sarmi District Health Profile in 2017, 31,068 cases of malaria patients.Sarmi Regency cases of pregnant women infected with Malaria in 2010 were 260 people (1.5%) with a total population of 41,515 residents.Method: To ascertain the association between knowledge and attitudes about malaria and the behavior of pregnant women to seek treatment for malaria in pregnancy at Samanente Public Health Center, Sarmi Regency, a cross-sectional, correlational analysis study was carried out. The instrument was a questionnaire, with a sample size of 30 respondents, obtained using a simple random sampling method. population in this study 30 people, this research used sampling technique Total Sampling with sampling 30 people. Inclusion criteria on this research is Willing to be a respondent, Mothers who are pregnant and currently or have suffered from malaria, Can read and write. Criteria exclusions in this study are Pregnant women who are sick at the time of the study, Pregnant women with Auto Immune, Pregnant women with pregnancy complicationsResults: it was found that respondents with moderate knowledge who did not have the habit of seeking malaria treatment in pregnancy were 56.3% and the group of respondents with good knowledge who did not have the habit of seeking malaria treatment in pregnancy was 71.4%. This indicates that having a greater degree of information can improve the proportion of behavior for not seeking malaria treatment during pregnancy, which is 15.1%. The study found no correlation between pregnant women's knowledge level and behavior in seeking treatment for malaria (P>0.05). On the contrary, there was a significant correlation between pregnant women's attitudes toward malaria and their behavior in seeking malaria treatment (P<0.05).Conclusion: Improved knowledge is associated with increased maternal awareness of malaria, and positive attitudes can help raise awareness of malaria. It is to be expected that pregnant women who seek treatment for malaria will have a greater understanding of the disease and a more positive attitude toward it.Suggestion: We propose that pregnant women should be required to regularly visit the health center for prenatal care examinations in order to enhance their understanding and attitudes toward malaria by obtaining malaria medication during pregnancy. Keywords : Malaria in pregnancy, Malaria treatment, Knowledge, attitude and behavior",
                        "publisher": "Program Studi Kebidanan Fakultas Ilmu Kesehatan Universitas Malahayati",
                        "sourceUrl": "http://ejurnalmalahayati.ac.id/index.php/kebidanan/article/view/7464/pdf",
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                        "downloadUrl": "http://ejurnalmalahayati.ac.id/index.php/kebidanan/article/download/7464/pdf",
                        "journalTitle": "JKM (Jurnal Kebidanan Malahayati)"
                      },
                      {
                        "doi": null,
                        "year": 2025,
                        "issue": "3",
                        "title": "Efficacy safety of chemoprophylactic plasmodium falciparum and sporozoite vaccines for malaria prevention: a systematic review and meta- analysis",
                        "volume": "3",
                        "authors": [
                          {
                            "name": "I N Kamila, Alya",
                            "authorId": "9295418"
                          },
                          {
                            "name": "S Chandrarini, Aqilla",
                            "authorId": "9295419"
                          },
                          {
                            "name": "S Devi, Rossi",
                            "authorId": "9295420"
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                        ],
                        "abstract": "PfSPZ-CVac, an innovative vaccine, aims to combat malaria by using live, weakened Plasmodium falciparum sporozoites in combination with chloroquine. This approach employs the whole parasite, triggering a strong immune response and potentially providing long-term protection. The objective of this study is to assess the efficacy and safety of the PfSPZ- Chemoprophylaxis Vaccine (PfSPZ-CVac) for malaria prevention. A systematic review following PRISMA guidelines was conducted, focusing on randomized controlled trials (RCTs) that assessed the efficacy and safety of the vaccine. Seven eligible studies were selected from eight electronic databases. The quality was assessed using the Cochrane Risk of Bias tool, and data analysis was performed using Review Manager 5.4. PfSPZ-CVac combines live sporozoites with chloroquine, which prevents the parasite from entering the liver and enhance the body’s immune response, particularly T-cell activation, to provide long- lasting protection against malaria. The meta-analysis revealed a significant reduction in parasitemia (P<0.00001, I²=35%, MD=0.38). Local solicited adverse events did not show a significant increase (MD=0.73, P=0.45, I²=0%). Similarly, systemic solicited adverse events and unsolicited adverse events demonstrated minimal risks (MD=0.89, P=0.56, I²=23%; MD=0.65, P=0.20, I²=0%). Although PfSPZ-CVac exhibits high efficacy, its administration is complex, and it carries a slight of rare adverse reactions. PfSPZ-CVac demonstrates potential for providing strong, long-term protection against malaria , with a positive safety profile, making it a promising candidate for widespread use in high-transmission regions. DOI : 10.35990/amhs.v3n3.p178-189 REFERENCES World Health Organization. World malaria report 2022 [Internet]. Geneva: WHO; 2022 [cited 2023 Mar 5]. Available from: https://www.who.int/teams/global-malaria-programme/reports/world-malaria-report-2022. World Health Organization. Malaria [Internet]. WHO; 2023 [cited 2023 Mar 5]. Available from: https://www.who.int/news-room/fact-sheets/detail/malaria. Berman J. Chemotherapy against malaria. Br Med Bull. 2000;54(2):459–70. https://doi.org/10.1258/0007142001903250. Cowman AF, Healer J, Marapana D, Marsh K. Malaria: Biology and disease. Cell. 2016;167(3):610–24. https://doi.org/10.1016/j.cell.2016.07.055. RTS,S Clinical Trials Partnership. Efficacy and safety of RTS,S/AS01 malaria vaccine with or without a booster dose in infants and children in Africa: Final results of a phase 3, individually randomised, controlled trial. Lancet. 2015;386(9988):31–45. https://doi.org/10.1016/S0140-6736(15)60721-8. Ghana Health Service. Ghana becomes first country to approve malaria vaccine [Internet]. Accra: GHS; 2023 [cited 2023 Apr 1]. Available from: https://www.ghanahealthservice.org. Laurens MB. RTS,S/AS01 vaccine (Mosquirix™): An overview. Hum Vaccin Immunother. 2020;16(3):480–9. https://doi.org/10.1080/21645515.2019.1669415. World Health Organization. WHO recommends groundbreaking malaria vaccine for children at risk [Internet]. WHO; 2021 [cited 2023 Mar 6]. Available from: https://www.who.int/news/item/06-10-2021-who-recommends-groundbreaking-malaria-vaccine-for-children-at-risk. Programme for Immunization. WHO recommends the R21/Matrix-M malaria vaccine [Internet]. WHO; 2023 [cited 2023 Apr 1]. Available from: https://www.who.int/news/item/02-10-2023-who-recommends-r21-matrix-m-malaria-vaccine. Datoo MS, Natama HM, Somé A, Traoré O, Rouamba T, Bellamy D, et al. Efficacy of a low-dose candidate malaria vaccine, R21 in adjuvant Matrix-M, with seasonal administration to children in Burkina Faso: A randomised controlled trial. Lancet. 2021;397(10287):1809–18. https://doi.org/10.1016/S0140-6736(21)00943-0. gov. Study to evaluate efficacy, immunogenicity and safety of the R21/Matrix-M vaccine (MAL-ED) [Internet]. 2023 [cited 2023 Apr 2]. Available from: https://clinicaltrials.gov/ct2/show/NCT04868604. Mahamar A, Issiaka D, Barry A, Kone DT, Traore F, Sissoko M, et al. Safety and immunogenicity of the R21/Matrix-M malaria vaccine administered seasonally in children in Mali: A randomised, controlled, phase 1/2 trial. Lancet Infect Dis. 2022;22(4):590–8. https://doi.org/10.1016/S1473-3099(21)00559-1. University of Oxford. R21/Matrix-M vaccine shows high-level efficacy of 77% over 12 months of follow-up [Internet]. Oxford; 2022 [cited 2023 Apr 2]. Available from: https://www.ox.ac.uk/news/2022-09-07. R21/Matrix-M malaria vaccine receives WHO recommendation [Internet]. UNICEF; 2023 [cited 2023 Apr 2]. Available from: https://www.unicef.org. World Health Organization. R21/Matrix-M malaria vaccine: WHO recommendation [Internet]. WHO; 2023 [cited 2023 Apr 3]. Available from: https://www.who.int/publications/i/item/9789240072056. Malaria vaccine implementation programme (MVIP) [Internet]. PATH; 2022 [cited 2023 Apr 3]. Available from: https://www.path.org/resources/malaria-vaccine-implementation-programme-mvip. Agnandji ST, Lell B, Fernandes JF, Abossolo BP, Methogo BG, Kabwende AL, et al. A phase 3 trial of RTS,S/AS01 malaria vaccine in African infants. N Engl J Med. 2011;365(20):1863–75. https://doi.org/10.1056/NEJMoa1102287. Otieno L, Akhwale W, Nzila A, Hunt R, Ochola S, Tetteh KKA, et al. Protective efficacy of RTS,S/AS01 malaria vaccine in children 5 to 17 months of age in Kenya and Tanzania: A phase 3, randomized, controlled trial. Lancet Infect Dis. 2016;16(11):1339–48. https://doi.org/10.1016/S1473-3099(16)30227-3. Olotu A, Fegan G, Wambua J, Nyangweso G, Leach A, Lievens M, et al. Seven-year efficacy of RTS,S/AS01 malaria vaccine among young African children. N Engl J Med. 2016;374(26):2519–29. https://doi.org/10.1056/NEJMoa1515257. White MT, Verity R, Griffin JT, Asante KP, Owusu-Agyei S, Greenwood B, et al. Immunogenicity of the RTS,S/AS01 malaria vaccine and implications for duration of vaccine efficacy: Secondary analysis of data from a phase 3 randomised controlled trial. Lancet Infect Dis. 2015;15(12):1450–8. https://doi.org/10.1016/S1473-3099(15)00239-X. Penny MA, Verity R, Bever CA, Galactionova K, Flasche S, White MT, et al. Public health impact and cost-effectiveness of the RTS,S/AS01 malaria vaccine: A systematic comparison of predictions from four mathematical models. Lancet. 2016;387(10016):367–75. https://doi.org/10.1016/S0140-6736(15)00725-4. Ehreth J. The global value of vaccination. Vaccine. 2003;21(7–8):596–600. https://doi.org/10.1016/S0264-410X(02)00623-0. Vaccine investment strategy [Internet]. Gavi, the Vaccine Alliance; 2023 [cited 2023 Apr 3]. Available from: https://www.gavi.org. Advancing the malaria vaccine pipeline [Internet]. PATH; 2022 [cited 2023 Apr 3]. Available from: https://www.path.org/articles/advancing-malaria-vaccine-pipeline. United Nations. Goal 3: Ensure healthy lives and promote well-being for all at all ages [Internet]. UN; 2022 [cited 2023 Apr 3]. Available from: https://sdgs.un.org/goals/goal3. The Global Fund. Malaria and the global fund [Internet]. 2023 [cited 2023 Apr 3]. Available from: https://www.theglobalfund.org/en/malaria. European Medicines Agency. First malaria vaccine receives positive scientific opinion from EMA [Internet]. EMA; 2015 [cited 2023 Apr 4]. Available from: https://www.ema.europa.eu/en/news. UNICEF Supply Division. Vaccine procurement and delivery [Internet]. UNICEF; 2022 [cited 2023 Apr 4]. Available from: https://www.unicef.org/supply. Bill & Melinda Gates Foundation. Malaria strategy overview [Internet]. Gates Foundation; 2023 [cited 2023 Apr 4]. Available from: https://www.gatesfoundation.org. Malaria: Developing better prevention and treatment [Internet]. Wellcome Trust; 2023 [cited 2023 Apr 4]. Available from: https://wellcome.org/what-we-do/our-work/malaria. What is the malaria vaccine pipeline? [Internet]. PATH; 2023 [cited 2023 Apr 4]. Available from: https://www.path.org/articles. RTS,S Clinical Trials Partnership. Long-term safety and efficacy of RTS,S/AS01 malaria vaccine in African infants and children: An open-label 4-year extension study of a phase 3 randomized controlled trial. Lancet Infect Dis. 2021;21(10):1404–16. https://doi.org/10.1016/S1473-3099(20)30779-8. Datoo MS, Natama HM, Somé A, Traoré O, Rouamba T, Bellamy D, et al. Efficacy of the R21/Matrix-M malaria vaccine with seasonal administration in children in Burkina Faso: A double-blind, randomized, controlled trial. Lancet Infect Dis. 2023;23(1):1–10. https://doi.org/10.1016/S1473-3099(22)00541-X. WHO Strategic Advisory Group of Experts on Immunization. WHO SAGE roadmap for prioritizing uses of malaria vaccines [Internet]. WHO; 2022 [cited 2023 Apr 4]. Available from: https://www.who.int/publications. Deeks JJ, Higgins JPT, Altman DG, editors. Chapter 10: Analysing data and undertaking meta-analyses. In: Higgins JPT, Thomas J, Chandler J, Cumpston M, Li T, Page MJ, Welch VA, editors. Cochrane Handbook for Systematic Reviews of Interventions version 6.2 (updated February 2021). Cochrane; 2021. Available from: training.cochrane.org/handbook. Mordmüller B, Surat G, Lagler H, et al. Sterile protection against human malaria by chemoattenuated PfSPZ vaccine. Nature. 2017;542:445–60. https://doi.org/10.1038/nature21060. Camponovo F, Campo JJ, Le TQ, Oberai A, Hung C, Pablo JV, et al. Proteome-wide analysis of a malaria vaccine study reveals personalized humoral immune profiles in Tanzanian adults. eLife. 2020;9:e53080. https://doi.org/10.7554/eLife.53080. Skelly CL, Cassagnol M, Munakomi S. Adverse effects of vaccines. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Apr 4]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538239/. Ibanez J, Fendel R, Lorenz FR, et al. Efficacy, T cell activation and antibody responses in accelerated Plasmodium falciparum sporozoite chemoprophylaxis vaccine regimens. NPJ Vaccines. 2022;7:59. https://doi.org/10.1038/s41541-022-00473-1. Healy SA, Murphy SC, Hume JCC, Shelton L, Kuntz S, Voorhis WCV, et al. Chemoprophylaxis vaccination: Phase I study to explore stage-specific immunity to Plasmodium falciparum in US adults. Clin Infect Dis. 2020;71(6):1481–90. https://doi.org/10.1093/cid/ciz1010. Mwakingwe-Omari A, Healy SA, Lane J, et al. Two chemoattenuated PfSPZ malaria vaccines induce sterile hepatic immunity. Nature. 2021;595:289–94. https://doi.org/10.1038/s41586-021-03684-z. Sulyok Z, Fendel R, Eder B, et al. Heterologous protection against malaria by a simple chemoattenuated PfSPZ vaccine regimen in a randomized trial. Nat Commun. 2021;12:2518. https://doi.org/10.1038/s41467-021-22740-w. Jongo SA, Urbano V, Church LWP, Olotu A, Manock SR, Schindler T, Mtoro A, et al. Immunogenicity and protective efficacy of radiation-attenuated and chemo-attenuated PfSPZ vaccines in Equatoguinean adults. Am J Trop Med Hyg. 2021;104(1):283–93. https://doi.org/10.4269/ajtmh.20-0435.",
                        "publisher": "ACTA Medical Health Sciences",
                        "sourceUrl": "http://amhs.unjani.ac.id/index.php/acta_medica/article/view/84/60",
                        "documentId": "5693929",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Efficacy+safety+of+chemoprophylactic+plasmodium+falciparum+and+sporozoite+vaccines+for+malaria+prevention+a+systematic+review+and+meta-+analysis\"",
                        "downloadUrl": "http://amhs.unjani.ac.id/index.php/acta_medica/article/download/84/60",
                        "journalTitle": "ACTA Medical Health Sciences"
                      },
                      {
                        "doi": "10.22435/mpk.v21i4 Des.79.",
                        "year": 2011,
                        "issue": "4",
                        "title": "Respon Klinis dan Parasitologis Dihidroartemisinin - Piperakuin pada Subyek Malaria Falsiparum dan Malaria Vivaks pada Hari Ke-3 Kunjungan Ulang",
                        "volume": "21",
                        "authors": [
                          {
                            "name": "Risniati, Yenni",
                            "authorId": "1142250"
                          },
                          {
                            "name": "Hasugian, Armedy Ronny",
                            "authorId": "278494"
                          },
                          {
                            "name": "Siswantoro, Hadjar",
                            "authorId": "382325"
                          },
                          {
                            "name": "Avrina, Rossa",
                            "authorId": "1142251"
                          },
                          {
                            "name": "Tjitra, Emiliana",
                            "authorId": "404296"
                          },
                          {
                            "name": "-, Delima",
                            "authorId": "530965"
                          }
                        ],
                        "abstract": "Background: Clinical and parasitological response of malaria treatment on day 3 follow-up (D3) is a crucial condition to predict the successful of treatment. D3 is a period time that Early Treatment Failure may happen which may cause severe or complicated malaria. Moreover, if the asexual parasitemia is still detected more than 10% study subjects, it is assumed parasites resistance against artemisinin. Methods: Analysis used data from Monitoring Drug Resistance In Subject With P.falciparum And P.vivax Malaria In Kalimantan And Sulawesi. Clinical data was gotten from anamnesis to identify clinical symptoms and physical examination including vital and clinical signs that was notified in case report form (CRF). Parasitological data was cross check examination from NIHRD microscopist for parasite density, and PCR examination result for Plasmodium detection and speciation that were recorded in log book and/or CRF. Clinical and parasitological response of DHP was examined with compared the condition of falciparum and vivax malaria on D0 (before treatment) and D3 (after 3 days treatment with completed dose). Result: Total malaria subject that were analyzed 206 subject, that were 119 falciparum malaria and 87 vivax malaria. Proportion subject falciparum and vivax malaria with clinical symptoms deceased significantly on D3 (p&lt;0.05), accepted diarrhea on subject with vivax malaria. Proportion clinical signs also decreased significantly on D3, accepted dyspneu on falciparum malaria subject. From 206 malaria subject, only 1 subject (0,8%) with falciparum malaria that still was found asexual parasite with low density (10/ul). Proportion subject with gametocyte also decreased significantly on falciparum malaria (p=0,000) and vivax malaria (p=0,000). Conclusion: Clinical and parasitological response of DHP in falciparum and vivax subjects was excellent by D3. Only one falciparum malaria subject (0,8%) was still detected asexual parasitemia with the density of 10/ul. DHP has rapid action and no clear signs artemisinin resistance.AbstrakLatar belakang: Respon klinis dan parasitologis pengobatan malaria pada hari ke 3 kunjungan ulang (H3), merupakan keadaan yang penting untuk memprediksi keberhasilan pengobatan. H3 merupakan kurun waktu yang memungkinkan terjadinya kegagalan pengobatan dini (Early Treatment Failure) yang dapat megakibatkan malaria berat atau malaria dengan komplikasi. Selain itu apabila parasitemia masih terdeteksi pada H3 sebanyak ?10% dapat sebagai tanda sudah terjadi resisten parasit terhadap derivat artemisinin. Metode: Analisis menggunakan data Monitoring Pengobatan malaria dengan DHP di Kalimantan dan Sulawesi. Data klinis merupakan hasil anamnesis untuk mengidentifikasi gejala klinis, dan pemeriksaan fisik termasuk tanda vital dan tanda klinis yang tercatat di formulir rekam medis subyek. Sedangkan data parasitologis merupakan data hasil pemeriksaan cek silang mikroskopis untuk kepadatan parasit, dan hasil PCR untuk deteksi dan spesiasi Plasmodium yang tercatat di log book dan/atau di formulir rekam medis subyek. Respon klinis dan respon parasitologis DHP dinilai dengan membandingkan keadaan subyek malaria falsiparum dan malaria vivaks pada H0 (sebelum pengobatan) dengan H3 (pada hari setelah pengobatan dengan dosis lengkap 3 hari). Hasil: Jumlah subyek malaria yang dianalisis adalah 206 yaitu 119 malaria falsiparum dan 87 malaria vivaks. Gejala klinis subyek malaria falsiparum dan malaria vivaks yang mendapat pengobatan DHP berkurang proporsinya secara bermakna pada H3 (p&lt;0,05), kecuali diare pada subyek malaria vivaks. Demikian pula tanda klinis berkurang proporsinya secara bermakna pada H3 (p&lt;0,05), kecuali sesak nafas pada subyek malaria falsiparum. Dari total 206 subyek malaria, hanya satu kasus (0,8%) malaria falsiparum yang masih terdeteksi parasit aseksualnya dengan kepadatan rendah (10/ul). Proporsi subyek dengan gametositemia juga menurun bermakna pada malaria falsiparum (p=0,000) dan malaria vivaks (p=0,000). Kesimpulan: Respon klinis dan parasitologis DHP pada subyek malaria falsiparum dan malaria vivaks sangat baik di H3. Hanya satu subyek malaria falsiparum (0,8%) yang masih terdeteksi aseksual parasitemia dengan kepadatan 10/ul. DHP cepat kerjanya dan belum ada tanda yang jelas parasit resisten artemisinin",
                        "publisher": "Badan Penelitian dan Pengembangan Kesehatan",
                        "sourceUrl": "http://ejournal.litbang.depkes.go.id/index.php/MPK/article/view/79",
                        "documentId": "1135920",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Respon+Klinis+dan+Parasitologis+Dihidroartemisinin+-+Piperakuin+pada+Subyek+Malaria+Falsiparum+dan+Malaria+Vivaks+pada+Hari+Ke-3+Kunjungan+Ulang\"",
                        "downloadUrl": null,
                        "journalTitle": "Media Penelitian dan Pengembangan Kesehatan"
                      },
                      {
                        "doi": "10.22146/jkki.v4i2.36100",
                        "year": 2015,
                        "issue": "2",
                        "title": "Kebijakan Penggunaan Batas Wilayah Epidemiologi dalam Pengendalian Penyakit Malaria (Studi Kasus di Puskesmas Kokap II Kabupaten Kulon Progo, DIY)",
                        "volume": "4",
                        "authors": [
                          {
                            "name": "Sutjipto Sutjipto",
                            "authorId": "2969295"
                          },
                          {
                            "name": "Hari Kusnanto",
                            "authorId": "2969296"
                          },
                          {
                            "name": "Laksono Trisnantoro",
                            "authorId": "5830850"
                          },
                          {
                            "name": "Lutfan Lazuardi",
                            "authorId": "2969297"
                          },
                          {
                            "name": "Indwiani Astuti",
                            "authorId": "235973"
                          }
                        ],
                        "abstract": "Background: There are 396 endemic districts from the total of 495 districts in Indonesia, with an estimated 45% of the population live in the areas that are at risk of infected malaria disease. Kulon Progo Regency is one of regencies in Yogyakarta (DIY), which until now has not declared elimination of malaria. PHC Kokap II located in Kokap sub-district, is the largest contributor of positive malaria cases in Kulon Progo regency due to the potential for outbreaks of malaria, during the period 1997-2004, when the number of malaria positive patients in the PHC Kokap II ranged between 26% - 55% of patients of the total positive malaria cases in Kulon Progo. This study aims to produce epidemiological information that is important in the region of PHC Kokap II associated with the distribution and determinants of malaria that affects the possibility of local transmission. Methods: The study design was a descriptive study, to get an overview of the distribution and determinants of malaria. The observation unit is the population in the form of correlation studies population and a time series. To determine the pattern of malaria transmission we use secondary data between 2009- 2012 malaria cases. Malaria incidence patterns were analyzed by person, place and time. To determine the clusters of malaria we use clustering analysis with the data of malaria cases in the region PHC Kokap II year 2012. To determine the spread of malaria in the cross-border area between PHC Kokap II and PHC Kaligesing we use secondary data year 2010-2012. Results: In the area of PHC Kokap II, we found import cases every year. Even more, in the year 2009 the proportion of import cases was 82% compared with all patients that were found malaria positive. Clusters of malaria is in the west region of PHC Kokap II, which is bordering to the Subdistrict Kaligesing, Purworejo, Central Java Province. Region PHC Kokap II is an area of high vulnerability, the potential to get the risk of transmission of imported cases of malaria is due to the entry of patients or infective vectors from high transmission areas to low transmission. Conclusion: The focus of malaria transmission in the area of PHC Kokap II is at the western part bordering the sub-district Kaligesing, Purworejo. PHC Kokap II is the region of high vulnerability. Policies need to be made use of epidemiological boundaries in the malaria control program in the cross-border region. Latar belakang: Di Indonesia masih terdapat 396 Kabupaten endemis dari 495 Kabupaten yang ada, dengan perkiraan seki- tar 45% penduduk berdomisili di daerah yang berisiko tertular malaria. Kabupaten Kulon Progo merupakan salah satu kabupa- ten di Daerah Istimewa Yogyakarta (DIY), yang sampai saat ini belum dinyatakan eliminasi. Wilayah Puskesmas Kokap II yang berada di Kecamatan Kokap, merupakan penyumbang terbesar penderita positip malaria untuk wilayah Kabupaten Kulon Progo diantaranya karena potensi terjadinya KLB malaria, selama periode tahun 1997-2004, range jumlah penderita positip ma- laria di wilayah Puskesmas Kokap II berkisar antara 26% - 55% penderita positip malaria di Kabupaten Kulon Progo. Pe- nelitian ini bertujuan untuk menghasilkan informasi epidemiologi yang penting di wilayah Puskesmas Kokap II terkait dengan distribusi dan determinan penyakit malaria yang sangat berpe- ngaruh terhadap kemungkinan terjadinya penularan setempat. Metode: Rancangan penelitian ini adalah studi deskriptif untuk mendapatkan gambaran distribusi dan determinan penyakit malaria, unit pengamatan adalah populasi dalam bentuk studi korelasi populasi dan rangkaian berkala. Untuk mengetahui pola penularan malaria digunakan data sekunder kasus ma- laria tahun 2009-2012, dianalisis pola kejadian malaria menurut orang, tempat dan waktu. Untuk mengetahui kluster penderita malaria dilakukan analisis klustering menggunakan data kasus malaria di wilayah Puskesmas Kokap II tahun 2012. Untuk mengetahui penyebaran penderita malaria di daerah lintas batas antara Puskesmas Kokap II Kabupaten Kulon Progo dan Pus- kesmas Kaligesing Kabupaten Purworejo digunakan data sekunder tahun 2010-2012. Hasil: Di wilayah Puskesmas Kokap II setiap tahun selalu dike- temukan kasus import, bahkan dalam tahun 2009 kasus import proporsinya adalah 82% dibandingkan dengan seluruh pen- derita positif malaria yang diketemukan. Kluster penderita ma- laria berada di bagian barat wilayah Puskesmas Kokap II, yaitu berbatasan langsung dengan Kecamatan Kaligesing Kabupaten Purworejo, Provinsi Jawa Tengah. Wilayah Puskesmas Kokap II merupakan daerah vulnerebilitas tinggi, potensial untuk menda- patkan risiko penularan kasus import karena masuknya pende- rita malaria atau vektor yang infektif dari daerah penularan tinggi ke penularan rendah. Kesimpulan: Fokus penularan penyakit malaria di wilayah Puskesmas Kokap II berada pada wilayah bagian barat berba- tasan dengan wilayah administratif Kecamatan Kaligesing, Ka- bupaten Purworejo. Puskesmas Kokap II adalah wilayah vulnerabilitas tinggi, perlu dibuat kebijakan penggunaan batas wilayah epidemiologi dalam program penanggulangan malaria di wilayah lintas batas.",
                        "publisher": "Center for Health Policy and Management",
                        "sourceUrl": "https://journal.ugm.ac.id/jkki/article/view/36100/21114",
                        "documentId": "688195",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Kebijakan+Penggunaan+Batas+Wilayah+Epidemiologi+dalam+Pengendalian+Penyakit+Malaria+Studi+Kasus+di+Puskesmas+Kokap+II+Kabupaten+Kulon+Progo+DIY\"",
                        "downloadUrl": "https://journal.ugm.ac.id/jkki/article/download/36100/21114",
                        "journalTitle": "Jurnal Kebijakan Kesehatan Indonesia"
                      },
                      {
                        "doi": "10.22435/mpk.v21i3 Sept.93.",
                        "year": 2011,
                        "issue": "3",
                        "title": "HUBUNGAN KEPADATAN PARASIT DENGAN MANIFESTASI KLINIS PADA MALARIA Plasmodium FALCIPARUM DAN Plasmodium VIVAX",
                        "volume": "21",
                        "authors": [
                          {
                            "name": "Avrina, Rossa",
                            "authorId": "1142251"
                          },
                          {
                            "name": "Risniati, Yenni",
                            "authorId": "1142250"
                          },
                          {
                            "name": "Siswantoro, Hadjar",
                            "authorId": "382325"
                          },
                          {
                            "name": "Hasugian, Armedy Ronny",
                            "authorId": "278494"
                          },
                          {
                            "name": "Tjitra, Emiliana",
                            "authorId": "404296"
                          },
                          {
                            "name": "-, Delima",
                            "authorId": "530965"
                          }
                        ],
                        "abstract": "Malaria is still a public health problem in Indonesia. The clinical manifestation of malaria is varied, and many factors may influence its clinical manifestation. Despite the species of malaria, density of parasitemia is known related to the severity or malignancy of malaria. It is worth to analyse the clinical and laboratory data of malaria cases in monitoring dihydroartemisinin-piperaquine (DHP) treatment. The extended analysed was done to assess the relationship between density of parasitemia and clinical manifestations. A subset data of monitoring DHP treatment in subjects with uncomplicated falciparum and vivax malaria in Kalimantan and Sulawesi which were consist of clinical and laboratory day-0 data was used in analysing. Clinical data were recorded through anamnesis and physical examination. Parasite density was counted by health centre microscopist and then cross-checked by certified microscopists of the Natiional Institute of Health Reseach and Development. Haemoglobin level was also measured by health centre analyst using the existing Sahli hemoglobinmeter. For parasite density category, median is used for cut off point. In P.falciparum malaria, the cut off point is 5588/µl and in P.vivax malaria is 3375/µl. The relationship between parasite density and clinical manifestation in falciparum and vivax malaria was determined by bivariate and multivariate analysis with logistic regression using SPSS 17 software. The most of subject with P.falciparum and P.vivax malaria are children (&lt;15 yeras old), male, and non indigenous. From analysis bivariate, variabels that can be analyzed by multivariate in P.falciparum malaria (p&lt;0,25) are children under 15 years old (p=0,0 12) and Sulawesi island where subject live(p=0,163) and In P.vivax malaria is children under 15 years old (p=0,218). Because of other variables are considered biologicaly related to parasite density, therefore all variabel are analyzed with multivariate. From multivariate analysis, there is significant relationship between parasite density and chidren under 15 years old in P.falciparum malaria (OR = 0,4, CI95%= 0,2-1,0). In P.vivax malaria, parasite density is related to children under 15 years old (OR = 0,6, CI 95% =0,2-1,9), haemoglobin level under 11gr/dl (OR= 1,4, CI 95%= 0,5-3,8), non indigenous OR= 0,3, CI 95%= 0,1-1,2) and the sum of clinical symptom &lt;7 (OR=0,7, CI 95%=0,3-1,9). Parasite density is not related with clinical manifestation in P.falciparum malaria.. Parasite density is related to children under 15 years old significantly in P.falciparum malaria. In P.vivax malaria, parasite density are related to children under 15 years old, anemia, non indigenous, and the sum of clinical symptom &lt;7. But the relationship isn?t significant. AbstrakMalaria merupakan salah satu masalah kesehatan di Indonesia. Gejala/manifetasiklinis malaria bervariasi dan banyak faktor yang dapat mempengaruhi beratnya manifestasi tersebut. Selain spesies dari malaria, kepadatan parasit diketahui berhubungan dengan berat atau keparahan malaria. Untuk itu penting menaganalisa data klinik dan laboratorium dari subyek malaria pada monitoring pengobatan DHP. Bagian Data dari Monitoring drug resistance in subject with P.falciparum and P.vivax malaria in Kalimantan and Sulawesi, Indonesia yang terdiri dari klinis dan laboratorium hari 0 dianalisa. Data klinis diambil melaluli anamnesa dan pemeriksaan fisik. Kepadatan parasit diperiksa oleh petugas mikroskopis Puskesmas dan di cek silang oleh petugas mikroskopis bersertifikasi di Badan Litbangkes. Data laboratorium lain yaitu kadar hemoglobin diperiksa oleh analis di Puskesmas menggunakan hemogobinmeter Sahli. Untuk pengelompokkan variabel kepadatan parasit , nilai median diambil sebagai cut off. Pada malaria P.falciparum cut off nya adalah 5588/µl, dan pada malaria P.vivax adalah 3375/µl. Hubungan antara kepadatan parasit dan manifestasi klinis pada malaria P.falciparum dan P.vivax ditentukan dengan analisis bivariat dan multivariat menggunakan regresi logistik dengan program SPSS 17.Subyek terbanyak pada malaria P.falciparum dan P.vivax adalah anak-anak (&lt;15tahun), berjenis kelamin laki-laki, dan merupakan pendatang. Pada analisis bivariat, variabel yang dapat dianalisis multivariat pada malaria P.falciparum (p&lt;0,25) adalah anak-anak yang berusia kurang 15 tahun (p=0,012) dan pulau Sulawesi sebagai tempat tinggal subyek (p=0,163), sedangkan pada malaria P.vivax adalah anak-anak yang berusia kurang dari 15 tahun(p= 0,218). Namun karena variabel-variabel lainnya dianggap berpengaruh secara biologis terhadap kepadatan parasit, maka semua variabel masuk kedalam analisis multivariat. Hasil dari analisis multivariat terlihat bahwa kepadatan parasit pada malaria P.falciparum berhubungan signifikan dengan anak ?anak yang berusia kurang dari 15 tahun (OR = 0,4, CI95%= 0,2-1,0). Pada malaria P.vivax, kepadatan parasit berhubungan dengan anak ?anak yang berusia kurang dari 15 tahun (OR = 0,6, CI 95% =0,2-1,9), kadar hemoglobin kurang dari 11gr/dl (OR= 1,4, CI 95%= 0,5-3,8), pendatang (OR= 0,3, CI 95%= 0,1-1,2) dan jumlah gejala klinik sedikit (OR=0,7, CI 95%=0,3-1,9). Namun hubungannya tidak bermakna. Pada malaria P.falciparum, kepadatan parasit tidak berhubungan dengan manifestasi klinis. Kepadatan parasit behubungan bermakna dengan anak- anak yang berusia kurang dari 15 tahun pada malaria P.falciparum. Pada malaria P.vivax, kepadatan parasit berhubungan dengan anak-anak yang berusia kurang dari 15 tahun, anemia, pendatang, dan jumlah gejala klinik. Namun hubungan variabel-variabel tersebut tidak bermakna.",
                        "publisher": "Badan Penelitian dan Pengembangan Kesehatan",
                        "sourceUrl": "http://ejournal.litbang.depkes.go.id/index.php/MPK/article/view/93",
                        "documentId": "1135956",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"HUBUNGAN+KEPADATAN+PARASIT+DENGAN+MANIFESTASI+KLINIS+PADA+MALARIA+Plasmodium+FALCIPARUM+DAN+Plasmodium+VIVAX\"",
                        "downloadUrl": null,
                        "journalTitle": "Media Penelitian dan Pengembangan Kesehatan"
                      },
                      {
                        "doi": "10.22146/jcoemph.38309",
                        "year": 2018,
                        "issue": "1",
                        "title": "Prevalensi malaria di Asmat, Papua: Gambaran situasi terkini di daerah endemik tinggi",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Josephine Debora",
                            "authorId": "4317038"
                          },
                          {
                            "name": "Hanggoro Tri Rinonce",
                            "authorId": "4317039"
                          },
                          {
                            "name": "Maria Fransiska Pudjohartono",
                            "authorId": "4317040"
                          },
                          {
                            "name": "Pritania Astari",
                            "authorId": "4317041"
                          },
                          {
                            "name": "Monica Gisela Winata",
                            "authorId": "4317042"
                          },
                          {
                            "name": "Fadli Kasim",
                            "authorId": "433860"
                          }
                        ],
                        "abstract": "ABSTRAK Malaria merupakan salah satu penyakit yang terus endemik di beberapa daerah di Indonesia walaupun pemerintah telah melakukan berbagai usaha untuk mengobati dan mencegah malaria. World Health Organization (WHO) menargetkan insidensi kasus malaria pada tahun 2030 dapat turun hingga 90% dibandingkan tahun 2015.Asmat merupakan salah satu daerah endemik tinggi dan menjadi salah satu daerah target program eliminasi malaria, namun belum ada publikasi data rinci terkait malaria di Asmat, Papua. Penelitian ini bertujuan untuk mengetahui prevalensi malaria di Asmat pada tahun 2017 dan melihat tren kejadian malaria yang merupakan salah satu indikator evaluasi program eliminasi malaria di Indonesia. Penelitian ini merupakan penelitian deskriptif observasional yang dilakukan selama pelaksanaan kegiatan Kuliah Kerja Nyata - Peduli Bencana (KKN-PB) Universitas Gadjah Mada (UGM), pada tanggal 17 Maret hingga 30 April 2018 di Asmat, Papua. Penelitian dilakukan dengan analisis data sekunder dan observasi. Data sekunder diambil dari Dinas Kesehatasn Kabupaten Asmat, kemudian dianalisis dan dipaparkan secara deskriptif. Dilakukan pula observasi lingkungan di Distrik Agats, Atsj, dan Sawaerma untuk mengetahui kemungkinan faktor-faktor risiko malaria. Pada tahun 2017, prevalensi malaria di kabupaten Asmat yaitu 12,37% dengan 7,90 % kasus malaria klinis dan 4,46% kasus malaria yang telah tegak diagnosisnya berdasarkan hasil pemeriksaan laboratorium. Prevalensi tersebut meningkat dibandingkan tahun 2016. Pusat Kesehatan Masyarakat (Puskesmas) Atsj merupakan puskesmas dengan prevalensi malaria tertinggi, yaitu sebesar 27,70%. Kejadian malaria ini kemungkinan dipengaruhi oleh lingkungan fisik (suhu, kelembaban, kerapatan dinding rumah, pengunaan kawat kassa, curah hujan), lingkungan biologi (adanya semak dan rawa), lingkungan kimia (salinitas dan pH), serta kebiasaan masyarakat. Hasil penelitian ini menunjukkan bahwa penanganan malaria di Asmat masih menjadi tantangan besar bagi petugas kesehatan dan pemerintah. Diperlukan penelitian lebih lanjut untuk mengetahui faktor penyebab masih tingginya kejadian malaria agar kebijakan yang diambil lebih tepat. KATA KUNCI prevalensi; malaria; endemik; Asmat; Papua ABSTRACT Malaria is still an endemic disease in Indonesia, despite years of government efforts to cure and prevent malaria. World Health Organization (WHO) has a goal to reduce malaria case incidence globally at least 90% in 2030 compared with 2015.Asmat is one of the high endemic areas in Indonesia, making Asmat one of the target areas for malaria elimination programs. However, the published data regarding malaria in Asmat is limited. This study aimed to investigate the prevalence of malaria in Asmat in 2017 and assess the trend of malaria prevalence, as an indicator in evaluating malaria elimination programs. This study was descriptive observational research which was performed from March 17th until April 30th 2018, as part of Kuliah Kerja Nyata - Peduli Bencana (KKN-PB) Universitas Gadjah Mada (UGM), in Asmat Regency. This study was using secondary data analysis and environmental observation. Secondary data was obtained from Department of Health in Asmat Regency and presented descriptively. Environmental observation in Agats, Atsj, and Sawaerma District was also conducted to find out the possible risk factors of malaria. In 2017, malaria prevalence in Asmat was 12.37% with 7.9% cases being clinically diagnosed malaria, and the other 4.46% laboratory diagnosed malaria. The prevalence in 2017 was higher than in 2016. Among all the districts in Asmat, Atsj had the highest prevalence (27.70%). Malaria prevalence was possibly affected by multiple factors, such as physical environment (temperature, humidity, houses’ wall density, and the use of wire net), biological environment (house surrounded by bush or swamp), chemical environment (pH and salinity), and habits in community. These findings suggest that malaria control is still a big challenge for health-care workers and government. Further research is needed to study the exact causes of high malaria prevalence in Asmat, so that more appropriate policies can be done to overcome the problem.KEYWORDS prevalence; malaria; endemic; Asmat; Papua",
                        "publisher": "Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada",
                        "sourceUrl": "https://jurnal.ugm.ac.id/jcoemph/article/view/38309/22894",
                        "documentId": "1300018",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Prevalensi+malaria+di+Asmat+Papua+Gambaran+situasi+terkini+di+daerah+endemik+tinggi\"",
                        "downloadUrl": "https://jurnal.ugm.ac.id/jcoemph/article/download/38309/22894",
                        "journalTitle": "Journal of Community Empowerment for Health"
                      },
                      {
                        "doi": "10.33024/jkpm.v7i6.14784",
                        "year": 2024,
                        "issue": "6",
                        "title": "Pemberdayaan Kader dalam Usaha Penemuan Kasus Malaria melalui Kegiatan MBS (Mass Blood Survey) Sebagai Hasil Implementasi Pelatihan di Desa Lempasing Wilayah Kerja Puskesmas Hanura",
                        "volume": "7",
                        "authors": [
                          {
                            "name": "Ujiani, Sri",
                            "authorId": "1498948"
                          },
                          {
                            "name": "Sulistianingsih, Eka",
                            "authorId": "1223993"
                          },
                          {
                            "name": "Nuraini, Sri",
                            "authorId": "602856"
                          }
                        ],
                        "abstract": "ABSTRAK Desa Lempasing terletak di daerah lahan berawa dan ditumbuhi banyak semak yang memungkinkan untuk tempat berkembangbiaknya vektor malaria. Desa Lempasing merupakan salah satu wilayah kerja Puskesmas Hanura yang berada di Kecamatan Pesawaran. Berdasarkan data dinas Kesehatan provinsi Lampung, pada Desa Lempasing terdapat kasus malaria terbanyak di provinsi Lampung. Untuk itu diperlukan partisipasi sivitas akademik Poltekkes Tanjungkarang, kader dan masyarakat untuk berperan serta serta membantu mengatasi permasalahan malaria melalui upaya promotif, preventif, berupa kegiatan Pengabdian Kepada masyarakat, salah satunya usaha penemuan (skrining) kasus malaria untuk menekan penularan dalam membantu penanggulangan malaria dengan memberdayakan kader malaria yang terlatih. Selain itu edukasi masyarakat terkait malaria masih harus terus menerus dilakukan. Pada kegiatan pengabdian kepada msyarakat ini telah dilakukan edukasi malaria pada masyarakat desa Lempasing, melakukan penemuan kasus malaria melalui kegiatan Mass Blood Survey (MBS), memberikan obat malaria bagi masyarakat yang positif malaria. Capaian program pada kegiatan pengabdian kepada masyarakat ini adalah 77% terdapat peningkatan pengetahuan masyarakat desa Lempasing tentang malaria, dilaksanakannya kegiatan penemuan kasus (skrining) malaria pada 522 masyarakat desa Lempasing dengan hasil 26 positif malaria, dan pemberian obat pada 26 masyarakat yang mengalami malaria. Target luaran pada kegiatan pengabdian kepada masyarakat ini adalah publikasi kegiatan pengabmas melalui Jurnal Poltekkes Tanjungkarang “Beguai Jejama”. Kata Kunci: Malaria, Kader Malaria, Mass Blood Survey (MBS) ABSTRACT Lempasing Village is located in a marshy area with abundant bushes, which provide a suitable environment for the breeding of malaria vectors. Lempasing Village is one of the working areas of Hanura Community Health Center located in Pesawaran District. According to data from the Lampung Provincial Health Office, Lempasing Village has the highest number of malaria cases in Lampung Province. Therefore, the participation of academic community of Tanjungkarang Health Polytechnic, cadres, and the community is necessary to assist in addressing the malaria problem through promotive and preventive efforts, such as community service activities, one of which is the effort to detect (screen) malaria cases to reduce transmission in supporting malaria control by empowering trained malaria cadres. In addition, educating the community about malaria must continue to be carried out. In this community service activity, malaria education has been conducted in Lempasing Village, malaria cases have been detected through Mass Blood Survey (MBS) activities, and malaria medication has been provided to positive cases. The achievements of the program in this community service activity are a 77% increase in knowledge among Lempasing Village residents about malaria, the implementation of malaria case detection (screening) activities for 522 residents of Lempasing Village resulting in 26 positive malaria cases, and the provision of medication to 26 individuals with malaria. The output target of this community service activity is the publication of community service activities through the Politeknik Kesehatan Tanjungkarang Journal \"Beguai Jejama.\" Keywords: Malaria, Malaria Cadres, Mass Blood Survey (MBS)",
                        "publisher": "Universitas Malahayati Lampung",
                        "sourceUrl": "https://ejurnalmalahayati.ac.id/index.php/kreativitas/article/view/14784/Download%20Artikel",
                        "documentId": "4500967",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Pemberdayaan+Kader+dalam+Usaha+Penemuan+Kasus+Malaria+melalui+Kegiatan+MBS+Mass+Blood+Survey+Sebagai+Hasil+Implementasi+Pelatihan+di+Desa+Lempasing+Wilayah+Kerja+Puskesmas+Hanura\"",
                        "downloadUrl": "https://ejurnalmalahayati.ac.id/index.php/kreativitas/article/download/14784/Download%20Artikel",
                        "journalTitle": "Jurnal Kreativitas Pengabdian Kepada Masyarakat (PKM)"
                      },
                      {
                        "doi": "10.56922/phc.v5i12.2427",
                        "year": 2026,
                        "issue": "12",
                        "title": "Edukasi kesehatan tentang malaria sebagai upaya mendukung program eliminasi malaria",
                        "volume": "5",
                        "authors": [
                          {
                            "name": "Thoyibah, Zurriyatun",
                            "authorId": "2270967"
                          },
                          {
                            "name": "Haryani, Haryani",
                            "authorId": "277329"
                          },
                          {
                            "name": "Mardani, Raden Ahmad Dedy",
                            "authorId": "506661"
                          },
                          {
                            "name": "Metri, Ni Ketut",
                            "authorId": "631967"
                          },
                          {
                            "name": "Hajri, Zuhratul",
                            "authorId": "1411313"
                          }
                        ],
                        "abstract": "Background: Malaria remains a public health problem in Indonesia, particularly in endemic and hypoendemic areas. Although the national elimination target was set for 2030, malaria cases were still reported as of 2024, including in West Lombok Regency, West Nusa Tenggara. Bukit Tinggi Village, the working area of ​​the Penimbung Community Health Center, faces environmental risk factors, population mobility, and suboptimal preventive behaviors. Limited public knowledge is a major challenge in supporting malaria elimination. Purpose: To increase public knowledge, awareness, and understanding of malaria and its prevention as part of malaria elimination efforts. Method: This community service activity was carried out in September 2024 in Batu Kemalik Hamlet, Bukit Tinggi Village, Penimbung District, West Lombok Regency. The activity was attended by 20 community members and Batu Kemalik Hamlet officials. The target of the activity was community knowledge about malaria and maintaining the environment of Batu Kemalik Hamlet so that it does not become a malaria endemic. The activity was carried out with a community participation-based education approach. Measurement of knowledge levels used questionnaires with direct interviews given before the educational activity (pre-test) and after the educational activity (post-test). Observation activities were carried out in October 2024 as an evaluation in assessing program implementation in Batu Kemalik Hamlet. Descriptive evaluation was carried out by looking at changes in the knowledge and understanding scores of participants before the educational activity (pre-test) and after the educational activity (post-test). Results: The level of knowledge of participants before the educational activity was 2 (10.0%) in the good category, 4 (20.0%) in the sufficient category, and 14 (70.0%) in the poor category. There was an increase in knowledge of participants after the educational activity, with 18 (90.0%) in the good category and 2 (10.0%) in the sufficient category. This increase in knowledge was also demonstrated by the practical efforts undertaken after receiving education on malaria prevention. Conclusion: Community service activities through health education using an interactive and participatory approach have had a significant impact on increasing public knowledge and understanding of malaria. The increased public knowledge through these activities also increased community motivation and awareness to implement malaria management and prevention measures in their communities as an effort to end the malaria endemic. Suggestion: Strengthening sustainable education programs through empowering health cadres and establishing malaria awareness groups is recommended, with regular and continuous health education implementation to enable the community to play an active role as agents of change in malaria prevention. It is hoped that similar community service activities can become a model for sustainable community-based health education and contribute significantly to supporting the achievement of the malaria elimination target in West Lombok Regency. Keywords: Community health; Health education; Malaria; Malaria elimination; Malaria prevention Pendahuluan: Malaria masih menjadi masalah kesehatan masyarakat di Indonesia, terutama di wilayah endemis dan hipoendemis. Meskipun target eliminasi nasional ditetapkan pada 2030, kasus malaria masih dilaporkan hingga 2024, termasuk di Kabupaten Lombok Barat, Nusa Tenggara Barat. Desa Bukit Tinggi, wilayah kerja Puskesmas Penimbung, memiliki faktor risiko lingkungan, mobilitas penduduk, serta perilaku pencegahan yang belum optimal. Keterbatasan pengetahuan masyarakat menjadi tantangan utama dalam mendukung eliminasi malaria. Tujuan: Untuk meningkatkan pengetahuan, kesadaran, dan pemahaman masyarakat tentang malaria dan pencegahannya sebagai upaya eliminasi malaria. Metode: Kegiatan pengabdian kepada masyarakat ini dilaksanakan pada bulan September 2024.di Dusun Batu Kemalik, Desa Bukit Tinggi, Kecamatan Penimbung, Kabupaten Lombok Barat. Kegiatan dikuti oleh 20 orang warga masyarakat dan aparatur Dusun Batu Kemalik. Sasaran kegiatan adalah pengetahuan masyarakat tentang malaria dan menjaga lingkungan Dusun Batu Kemalik agar tidak menjadi endemi malaria. Kegiatan dilaksanakan dengan pendekatan edukasi berbasis partisipasi masyarakat. Pengukuran tingkat pengetahuan menggunakan kuesioner dengan wawancara langsung yang diberikan sebelun kegiatan edukasi (pre-test) dan sesudah kegiatan edukasi (post-test). Kegiatan observasi dilakukan pada bulan Oktober 2024 sebagai evaluasi dalam memberikan penilaian pelaksanaan program di Dusun Batu Kemalik. Evaluasi secara deskriptif dilakukan dengan melihat perubahan nilai pengetahuan dan pemahaman peserta sebelum kegiatan edukasi (pre-test) dan sesudah kegiatan edukasi (post-test). Hasil: menunjukkan bahwa tingkat pengetahuan peserta sebelum kegiatan edukasi adalah sebanyak 2 orang (10.0%) dalam kategori baik, sebanyak 4 orang (20.0%) dalam kategori cukup, dan sebanyak 14 orang (70.0%) dalam kategori kurang. Terdapat peningkatan pengetahuan peserta setelah kegiatan edukasi menjadi sebanyak 18 orang (90.0%) dalam kategori baik dan sebanyak 2 orang (10.0%) dalam kategori cukup. Peningkatan pengetahuan peserta juga ditunjukkan dengan upaya praktik yang dilakukan setelah menerima edukasi dalam pencegahan malaria. Simpulan: Kegiatan pengabdian masyarakat melalui edukasi kesehatan dengan pendekatan interaktif dan partisipatif meberikan dampak nyata dalam meningkatkan pengetahuan dan pemahaman masyarakat tentang malaria. Meningkatnya pengetahuan masyarakat dalam kegiatan ini juga meningkatkan motivasi masyarakat dan kesadaran komunitas untuk melakukan penatalaksanaan dan langkah pencegahan malaria di lingkungan sebagai upaya memutus endemi kejadian malaria. Saran: Diharapkan adanya penguatan program edukasi berkelanjutan melalui pemberdayaan kader kesehatan dan pembentukan kelompok peduli malaria, dengan pelaksanaan pendidikan kesehatan secara rutin dan berkesinambungan agar masyarakat dapat berperan aktif sebagai agen perubahan dalam pencegahan malaria. Diharapkan kegiatan pengabdian serupa dapat menjadi model edukasi kesehatan berbasis masyarakat yang berkelanjutan dan berkontribusi nyata dalam mendukung tercapainya target eliminasi malaria di Kabupaten Lombok Barat.",
                        "publisher": "Indonesian Public Health-Observer Information Forum (IPHORR) Kerja sama dengan: Unit Penelitian dan Pengabdian Kep Akademi Keperawatan Baitul Hikmah",
                        "sourceUrl": "https://e-jurnal.iphorr.com/index.php/phc/article/view/2427/3021",
                        "documentId": "5995433",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Edukasi+kesehatan+tentang+malaria+sebagai+upaya+mendukung+program+eliminasi+malaria\"",
                        "downloadUrl": "https://e-jurnal.iphorr.com/index.php/phc/article/download/2427/3021",
                        "journalTitle": "JOURNAL of Public Health Concerns"
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                        "doi": null,
                        "year": 2019,
                        "issue": "9",
                        "title": "PENGGUNAAN PBL UNTUK MENINGKATKAN HASIL BELAJAR PPKn SISWA KELAS X SMA MUJAHIDIN PONTIANAK",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Jasmine, Khariza Arnita",
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                        "abstract": "Abstract                                                            This research aims to improve student learning result by using the Problem Based Learning (PBL) learning model in Civic Education subjects. This is a classroom action research with the descriptive method. The research was conducted at the senior high school Mujahidin Pontianak, enaging 31 of 10th -grade Social 3 students as the research subject. Data collection techniques used were measurement techniques, direct observation techniques, and documentary study techniques with data collection tools used were learning result tests and observation sheets. The collected data were analyzed by calculating the average and the percentage. Each cycle consists of 4 stages, named planning, implementation, observation and reflection. The results showed that, in the Cycle I, the average student learning result was only 63,22 with the number of students reach the minimum completeness criteria (KKM) was 3 students or 9.67%.respectively, the average result in Cyle II and Cycle III are 71,29 and 85,28 with the number of students passing the KKM as many as 13 and 27 or 42,00% and 87,00% in percentage. Based on the analysis, it shows that PBL model can improve learning result to the 10th –grade student of Social 3 in Senior High School Mujahidin Pontianak in Civic Education subject.Keyword: Learning Result, PBL, Used",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/35704/75676582962",
                        "documentId": "1514108",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PENGGUNAAN+PBL+UNTUK+MENINGKATKAN+HASIL+BELAJAR+PPKn+SISWA+KELAS+X+SMA+MUJAHIDIN+PONTIANAK\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/35704/75676582962",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2019,
                        "issue": "12",
                        "title": "PEMANFAATAN BUKU TEKS SEBAGAI SUMBER BELAJAR DALAM PEMBELAJARAN SOSIOLOGI KELAS XI SMAN 2 MENYUKE",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Siska, Siska",
                            "authorId": "382133"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Ulfah, Maria",
                            "authorId": "407450"
                          }
                        ],
                        "abstract": "AbstractThis study aims to study textbooks in sociology as a source of learning textbooks can help as a source of learning and teaching sociology because there are materials, and various evaluations, looking for learning objectives can help optimally.The first choice of textbook criteria matches the relevance of the material contained in the textbook to the curriculum structure. The data source of this study were students of class XI IIS 1 and sociology teacher of SMAN 2 Menyuke and the results of interviews and observations. The results of this study indicate the study of sociology textbooks as a source of learning in sociology learning so that it is relevant to the learning objectives and other learning components can help improve learning efficiency and support learning goals, increase positive values in the learning process, in accordance with interactions and learning strategies that have been designed orbeing implemented. Factors that influence the development of sociology learning textbooks as a source of learning in the development of sociology learning technology. Keywords: Textbooks, Learning Resources, sociology learningÂ",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/37888/75676584251",
                        "documentId": "1514167",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PEMANFAATAN+BUKU+TEKS+SEBAGAI+SUMBER+BELAJAR+DALAM+PEMBELAJARAN+SOSIOLOGI+KELAS+XI+SMAN+2+MENYUKE\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/37888/75676584251",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2019,
                        "issue": "11",
                        "title": "PENGARUH HASIL BELAJAR KEWIRAUSAHAAN TERHADAP MINAT BERWIRAUSAHA KELAS XI SMK PANCA BHAKTI KUBU RAYA",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Rhosa, Eliya",
                            "authorId": "1416536"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Sumartono, Bambang Genjik",
                            "authorId": "392150"
                          }
                        ],
                        "abstract": "AbstractThe title of this research is the Effect of Learning Outcomes of Entrepreneurship on Entrepreneurial Interest in Class XI Students of SMK Panca Bhakti Sungai Raya Kubu Raya Regency. A general problem in this study is how the effect of entrepreneurial learning outcomes on entrepreneurial interest in class XI students of SMK Panca Bhakti Sungai Raya, Kubu Raya Regency. The purpose of this study was to determine the learning outcomes of entrepreneurship subjects in class XI Vocational High School Panca Bhakti Sungai Raya, to determine the entrepreneurial interest of students in class XI Vocational School Panca Bhakti and to determine the effect of entrepreneurial learning outcomes on entrepreneurial interest in class XI Vocational School Panca Bhakti. The method used is a descriptive method with the form of a study of relationship studies that aims to determine the effect of entrepreneurial learning outcomes on student entrepreneurial interest. The results of this study stated that the effect of entrepreneurial learning outcomes on student entrepreneurial interest in the amount of 26.7% included in the low category and the remaining 73.3% was influenced by other factors such as motivation and background of students' parents who were not reviewed in this study. Keywords:Learning Outcomes, Entrepreneurship Interest",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/37881/75676584246",
                        "documentId": "1514183",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PENGARUH+HASIL+BELAJAR+KEWIRAUSAHAAN+TERHADAP+MINAT+BERWIRAUSAHA+KELAS+XI+SMK+PANCA+BHAKTI+KUBU+RAYA\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/37881/75676584246",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2019,
                        "issue": "9",
                        "title": "PENGARUH PENGGUNAAN MODEL PEMBELAJARAN SCRAMBLE TERHADAP HASIL BELAJAR SISWA PADA MATA PELAJARAN PPKn",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Kalsum, Umi",
                            "authorId": "221209"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Achmadi, Achmadi",
                            "authorId": "218730"
                          }
                        ],
                        "abstract": "AbstractThis study aims to determine the effect of using scramble learning model for students' learning outcomes in Civic Education subject at class XII of SMA Negeri 5 Pontianak. The method of research is the experimental method using Quasi Experimental Design, Nonequivalent Control Group Design. The subject of this research was the class XII Science 2 (as experimental class) and XII Science 3 (as control class). This research instrument consist of multiple choice with 20 questions. The student learning outcomes of experiment class before and after treatment with scramble learning model, the averages pre-tests and post-test is 66.25 and 84.58. While the results of the student learning control class before and after given treatment conventional learning, the averages pre-test and post-test is 64.30 and 78.33. Based on the paired sample ttest on the value 0.000<0.005 therefore, Ho was rejected and Ha is accepted. Based on the calculation of the effect size experiment class is 3.317>1.00 and for control class is 1.98>1.00. In conclusion, theres is an effect in the use of scramble learning model towards students learning outcomes in Civic Education in class XII Science 2, compared with an effect of conventional learning models in class XII Science 3. Keywords: Learning Model Scramble, Learning Outcomes, Civic Education",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/35781/75676583012",
                        "documentId": "1513902",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PENGARUH+PENGGUNAAN+MODEL+PEMBELAJARAN+SCRAMBLE+TERHADAP+HASIL+BELAJAR+SISWA+PADA+MATA+PELAJARAN+PPKn\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/35781/75676583012",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2020,
                        "issue": "1",
                        "title": "ANALISIS MOTIVASI SISWA DALAM PEMBELAJARAN EKONOMI DI KELAS XI IIS 2 SMA SANTUN UNTAN PONTIANAK",
                        "volume": "9",
                        "authors": [
                          {
                            "name": "Akfatulilah, Rizvi",
                            "authorId": "1416353"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Warneri, Warneri",
                            "authorId": "1151056"
                          }
                        ],
                        "abstract": "AbstractThis purpose of this research is to know the student motivation to learn Economic for class XI IIS 2 SMA Santun Untan pontianak. Metodelogy of this rearch is descriptive metothodology eith qualitative approach. Souces of this research are observation and direct communcation with interview and study documentation wcih is paper. The result of this research show that analysis of student motivation to learn economis for class class XI IIS 2 SMA Santun Untan pontianak have 2 indicatoin: 1)instrinsic learning motivation possessed by students of class XI IIS 2 shows that the desire and itention to succeed lack student motivation for learn economic and the encouragment dan needs, hopes and aspirations of the future in economic learnig. 2) Extrinsic learning motivation of student of class XI IIS 2 shows that intersting activities less motivating student to learn economis as well as from rewards in studing and a conducive learning environment that skill makes students less motivated. Keywords: Student Motivation, Economic Learning.",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/39200",
                        "documentId": "1513957",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"ANALISIS+MOTIVASI+SISWA+DALAM+PEMBELAJARAN+EKONOMI+DI+KELAS+XI+IIS+2+SMA+SANTUN+UNTAN+PONTIANAK\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/39200/75676585078",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2019,
                        "issue": "9",
                        "title": "IMPLEMENTASI NILAI-NILAI KEPRAMUKAAN PADA SISWA SMP NEGERI 7 SUNGAI RAYA KABUPATEN KUBU RAYA",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Pranata, Eka",
                            "authorId": "1416355"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Supriadi, Supriadi",
                            "authorId": "4346786"
                          }
                        ],
                        "abstract": "AbstractThe title of this thesis is \"Implementation of Scouting Values for Students in SMP Negeri 7 Sungai Raya, Kubu Raya Regency\". The general problem of this research is how to implement Scouting values in students at SMP Negeri 7 Sungai Raya, Kubu Raya Regency, with sub-problems (1) how to implement Scouting values in the form of courageous and loyal discipline, (2) how to implement Scouting values polite and knightly patriot forms, (3) how the Scouting Implementation values are responsible and trustworthy forms. The method used is a qualitative method with descriptive analysis. Data collection tools use observation guidelines, interview guidelines and documentation. The results showed that. (1) The implementation of the values of scouting forms of brave and loyal discipline is very good. This is evidenced when scouting activities, scout coaches apply the values of scouting, scout coaches provide advice by reminding students about the importance of scouting values in forming good personalities, (2) The implementation of scouting values in a polite patriot form is good enough. This is proven by the scout builder of good behavior to all students so that students and vice versa. (3) Implementation of the values of scouting forms is responsible and can be trusted very well. This is proven by the scoutmaster who is responsible for the success of his students in the school environment. Keywords : Implementation, Scouting, Values",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/35791",
                        "documentId": "1513959",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"IMPLEMENTASI+NILAI-NILAI+KEPRAMUKAAN+PADA+SISWA+SMP+NEGERI+7+SUNGAI+RAYA+KABUPATEN+KUBU+RAYA\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/35791/75676583019",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2019,
                        "issue": "11",
                        "title": "PENGARUH KEAKTIFAN BELAJAR SISWA TERHADAP HASIL BELAJAR PRAKTIK PEMBELAJARAN MESIN BISNIS",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Gayatri, Gayatri",
                            "authorId": "279138"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Sumartono, Bambang Genjik",
                            "authorId": "392150"
                          }
                        ],
                        "abstract": "Abstract This studi aims to study “active learning towards machine learning in class XI Marketing SMK Negeri 8 Pontianak”. the method used is a quantitative descriptive method with the form of a study of relationship studies. Data collection techniques used are direct communication, indirect questionnaires, interview guidelines, and documentational.the sampel in the study showed that there was a positive influence on student’ learning activeness on learning outcomes indicated by the correlation coefficient of 0.135. the coefficient of determination in this study shows the contribution of the dependent variable (X), namely the effect of student learning activeness on the dependent variable (Y), namely the learning outcomes of 0.135 or 13,5%. While the rest is influenced by other variable not explained in this study. With simple lenear regression calculation obtained equation Y = 90.426+0.21 X, which means the constant value of 90.426 if the effect of student learning activeness is zero (0), then the learning outcomes of 0.221, this mean that an increase in student learning activeness by 1 then the learning outcomes will increase y 0.221.Keywords:Student Learning Activeness, Learning Outcomes",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/38149/75676584375",
                        "documentId": "1514020",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PENGARUH+KEAKTIFAN+BELAJAR+SISWA+TERHADAP+HASIL+BELAJAR+PRAKTIK+PEMBELAJARAN+MESIN+BISNIS\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/38149/75676584375",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
                      },
                      {
                        "doi": null,
                        "year": 2017,
                        "issue": "11",
                        "title": "PERSEPSI MASYARAKAT TERHADAP ETIKA PERGAULAN MAHASISWA KOST DI RT 03 KELURAHAN BANSIR DARAT KECAMATAN PONTIANAK TENGGARA",
                        "volume": "6",
                        "authors": [
                          {
                            "name": "Febriyani, Devi",
                            "authorId": "1349125"
                          },
                          {
                            "name": "Sulistyarini, Sulistyarini",
                            "authorId": "391358"
                          },
                          {
                            "name": "Rustiyarso, Rustiyarso",
                            "authorId": "1388662"
                          }
                        ],
                        "abstract": "AbstractThesis title \"Societys? Perception on the Social Ethics of the College Students Live in Dormitory at RT 03 Kelutahan Bansir Darat Kecamatan Pontianak Tenggara\". The main problem in this research is how is societys? perception towards social ethics of the college students who live at dormitory. This research uses qualitative approach with descriptive method. Technique data collection used are observation techniques, interviews, and documentation study. The results showed that: (1) Societys? appraisement towards social ethics of the college students showed that students who are sociable proven fairly with greeting and smile, interaction with society has not been good yet because interaction occurs only when there is needs (2) Forms of violation have done by the college students are coming home over time which it has to be not later than 11 pm and guest of the opposite sex visiting hours which it has to be not later than 10 pm (3) The control towards college students showed that the preventive and repressive controls done by society leader and the dorm owner towards college students is quite good because the prevention through rules and repressive reprimand in the form of warning, punishment in the form of expelling and advice in the form of calling students who violated the rules have been conducted.Keywords: Perception, Social Ethics, College students live in dormitory",
                        "publisher": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa",
                        "sourceUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/view/22890",
                        "documentId": "1559743",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PERSEPSI+MASYARAKAT+TERHADAP+ETIKA+PERGAULAN+MAHASISWA+KOST+DI+RT+03+KELURAHAN+BANSIR+DARAT+KECAMATAN+PONTIANAK+TENGGARA\"",
                        "downloadUrl": "http://jurnal.untan.ac.id/index.php/jpdpb/article/download/22890/18142",
                        "journalTitle": "Jurnal Pendidikan dan Pembelajaran Khatulistiwa"
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                        "doi": "10.33023/jikep.v11i1.2302",
                        "year": 2025,
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                        "title": "Analisa diskriptif peran kader malaria terhadap penemuan dini kasus malaria di wilayah pembangunan Ibu Kota Nusantara (IKN) dan daerah endemis Kelurahan Sotek: Descriptive analysis the role of malaria cadres on early discovery of malaria cases in the area of National Capital City (IKN) development and endemic areas of Sotek Village",
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                            "name": "Sulistyarini, Wahyu Dewi",
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                        "abstract": "Malaria disebabkan oleh parasit Plasmodium dan ditularkan melalui gigitan nyamuk Anopheles betina, masih menjadi masalah kesehatan signifikan di Kabupaten Penajam Paser Utara, khususnya di daerah endemis Kelurahan Sotek. Keberadaan kader diperlukan karena wilayah endemis yang jauh dari sarana prasarana kesehatan dan kegiatan survey migrasi. Penelitian ini bertujuan untuk menggambarkan peran kader malaria di wilayah Pembangunan IKN dan Kelurahan Sotek serta menganalisis kontribusi mereka dalam pengendalian penyakit. Penelitian kuantitatif ini menggunakan metode deskriptif analitik dengan sampel total dari 40 kader malaria di daerah tersebut. Variabel penelitian adalah peran kader malaria, yang dianalisis secara univariat dengan distribusi frekuensi. Hasil menunjukkan bahwa sebagian besar kegiatan kader dilaksanakan secara optimal, meskipun ada satu kegiatan, yaitu pemberian obat malaria, yang belum sepenuhnya optimal. Secara keseluruhan, peran kader malaria di wilayah Pembangunan IKN dan Kelurahan Sotek adalah baik dan optimal. Untuk selanjutnya dapat direncanakan pelaksanaan pelatihan kader malaria terutama tata cara pemberian obat anti malaria dan penatalaksanaannya pada wilayah Pembangunan IKN.",
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                        "year": 2025,
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                        "title": "Analisa diskriptif peran kader malaria terhadap penemuan dini kasus malaria di wilayah pembangunan Ibu Kota Nusantara (IKN) dan daerah endemis Kelurahan Sotek: Descriptive analysis the role of malaria cadres on early discovery of malaria cases in the area of National Capital City (IKN) development and endemic areas of Sotek Village",
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                            "name": "Sulistyarini, Wahyu Dewi",
                            "authorId": "2045587"
                          }
                        ],
                        "abstract": "Malaria disebabkan oleh parasit Plasmodium dan ditularkan melalui gigitan nyamuk Anopheles betina, masih menjadi masalah kesehatan signifikan di Kabupaten Penajam Paser Utara, khususnya di daerah endemis Kelurahan Sotek. Keberadaan kader diperlukan karena wilayah endemis yang jauh dari sarana prasarana kesehatan dan kegiatan survey migrasi. Penelitian ini bertujuan untuk menggambarkan peran kader malaria di wilayah Pembangunan IKN dan Kelurahan Sotek serta menganalisis kontribusi mereka dalam pengendalian penyakit. Penelitian kuantitatif ini menggunakan metode deskriptif analitik dengan sampel total dari 40 kader malaria di daerah tersebut. Variabel penelitian adalah peran kader malaria, yang dianalisis secara univariat dengan distribusi frekuensi. Hasil menunjukkan bahwa sebagian besar kegiatan kader dilaksanakan secara optimal, meskipun ada satu kegiatan, yaitu pemberian obat malaria, yang belum sepenuhnya optimal. Secara keseluruhan, peran kader malaria di wilayah Pembangunan IKN dan Kelurahan Sotek adalah baik dan optimal. Untuk selanjutnya dapat direncanakan pelaksanaan pelatihan kader malaria terutama tata cara pemberian obat anti malaria dan penatalaksanaannya pada wilayah Pembangunan IKN.",
                        "publisher": "UPPM STIKES Pemkab Jombang",
                        "sourceUrl": "https://journal.stikespemkabjombang.ac.id/index.php/jikep/article/view/2302/1217",
                        "documentId": "4957784",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Analisa+diskriptif+peran+kader+malaria+terhadap+penemuan+dini+kasus+malaria+di+wilayah+pembangunan+Ibu+Kota+Nusantara+IKN+dan+daerah+endemis+Kelurahan+Sotek+Descriptive+analysis+the+role+of+malaria+cadres+on+early+discovery+of+malaria+cases+in+the+area+of+National+Capital+City+IKN+development+and+endemic+areas+of+Sotek+Village\"",
                        "downloadUrl": "https://journal.stikespemkabjombang.ac.id/index.php/jikep/article/download/2302/1217",
                        "journalTitle": "Jurnal Ilmiah Keperawatan (Scientific Journal of Nursing)"
                      },
                      {
                        "doi": "10.58623/aspirator.v15i1.74",
                        "year": 2024,
                        "issue": "1",
                        "title": "Inovasi program pengendalian malaria menuju eliminasi malaria di Kabupaten Fakfak, Papua Barat: Malaria Control Program Innovation Towards Malaria Elimination in Fakfak District, West Papua",
                        "volume": "15",
                        "authors": [
                          {
                            "name": "Rina Marina",
                            "authorId": "3162745"
                          },
                          {
                            "name": "Shinta",
                            "authorId": "2128803"
                          },
                          {
                            "name": "Helper Sahat P Manalu",
                            "authorId": "8825207"
                          },
                          {
                            "name": "Alfons M. Letelay",
                            "authorId": "8825208"
                          },
                          {
                            "name": "Muhammad Fajri Rokhmad",
                            "authorId": "8825209"
                          },
                          {
                            "name": "Tri Isnani",
                            "authorId": "3519237"
                          }
                        ],
                        "abstract": "Malaria control in Indonesia has been facing various challenges and obstacles, especially in Eastern Indonesia. Several strategies have been carried out to achieve national elimination by 2030. This study aims to explore innovative strategies for controlling malaria in Fakfak Regency, West Papua Province which is one of the malaria endemic areas in eastern Indonesia. This type of research is a qualitative study using in-depth interviews with malaria program managers (n=6). The interview process was recorded through the zoom-meeting application and then transcription of the interview results was used to conduct content analysis. The results showed that the Bela Kaca Innovation (Bebas Malaria Kampung Bercahaya), which was initiated by the Fakfak Regency Health Office, hassucceeded significantly in reducing malaria cases in the last 5 years. This program fights malaria from village to village by involving all parties in the Malaria Center. The innovation of Bela Kaca is carried out by attacking and defending strategies. The attacks are carried out intensively in villages that had 5 or more malaria cases within two months by mass screening, indoor residual spraying (IRS), surveys of insecticide-treated mosquito nets and vector control until cases become zero. The survival strategy is carried out if there are no malaria cases, then surveillance is carried out strictly, if cases are found, then the 1-2-5 method is used. In conclusion, Bela Kaca control innovation can be one of the efforts to accelerate malaria elimination that is supported by the community and stakeholders",
                        "publisher": "Perkumpulan Entomologi Kesehatan Indonesia",
                        "sourceUrl": "https://jurnal.peki.or.id/index.php/aspirator/article/view/74/7",
                        "documentId": "5099587",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Inovasi+program+pengendalian+malaria+menuju+eliminasi+malaria+di+Kabupaten+Fakfak+Papua+Barat+Malaria+Control+Program+Innovation+Towards+Malaria+Elimination+in+Fakfak+District+West+Papua\"",
                        "downloadUrl": "https://jurnal.peki.or.id/index.php/aspirator/article/download/74/7",
                        "journalTitle": "Aspirator"
                      },
                      {
                        "doi": "10.47539/jktp.v8i1.431",
                        "year": 2025,
                        "issue": "1",
                        "title": "Paparan malaria maternal dan bayi berat lahir rendah: studi kasus-kontrol di daerah endemik malaria Papua, Indonesia: Maternal malaria exposure and low birth weight: a case-control study in malaria-endemic Papua, Indonesia",
                        "volume": "8",
                        "authors": [
                          {
                            "name": "Masrif",
                            "authorId": "9859880"
                          },
                          {
                            "name": "I Rai Ngardita",
                            "authorId": "10294168"
                          },
                          {
                            "name": "Muhamad Sahiddin",
                            "authorId": "10294169"
                          },
                          {
                            "name": "Mustika Pramestiyani",
                            "authorId": "10294170"
                          },
                          {
                            "name": "Harlyanti Mashar",
                            "authorId": "10294171"
                          },
                          {
                            "name": "Itma Annah",
                            "authorId": "10294172"
                          }
                        ],
                        "abstract": "Malaria selama kehamilan merupakan salah satu faktor risiko utama terjadinya malnutrisi pada bayi. Hubungan malaria dan kejadian BBLR di daerah endemik tinggi malaria seperti Papua perlu dikaji sebagai upaya mengatasi kedua masalah kesehatan tersebut. Penelitian ini bertujuan untuk mengevaluasi hubungan antara paparan malaria selama kehamilan dan kejadian BBLR di Papua. Penelitian ini menggunakan desain case-control yang dilakukan tahun 2024 di Papua pada 21 puskesmas. Sampel penelitian berjumlah 288 responden, terdiri dari 96 kasus (BBLR) dan 192 kontrol (bayi dengan berat lahir normal) dipilih dengan simple random sampling. Pengumpulan data dilakukan dengan pemeriksaan rekam medis dan wawancara terstruktur menggunakan kuesioner. Analisis data dilakukan menggunakan uji chi-square dan regresi logistik untuk analisis multivariat. Hasil penelitian jenis plasmodium yang paling banyak ditemukan adalah Plasmodium vivax (malaria tertiana) (45,9%) dan diikuti oleh Plasmodium falciparum (malaria tropika) (41,0%). Selama kehamilan paparan malaria paling banyak terjadi pada trimester kedua (39,3%). Kejadian malaria selama kehamilan (OR adjusted= 2,09; CI 95%: 1,14–3,84) dan tidak menggunakan kelambu anti nyamuk pada masa kehamilan (OR adjusted= 1,83; CI 95%: 1,09–3,08) merupakan faktor risiko BBLR. Selain itu, karakteristik usia ibu yang berada pada kategori berisiko juga menunjukkan hubungan signifikan dengan kejadian BBLR (OR adjusted= 2,18; CI 95%: 1,24–3,86). Paparan malaria selama kehamilan dan usia ibu yang berisiko merupakan faktor yang memengaruhi kejadian BBLR di Papua. Intervensi kesehatan masyarakat yang terfokus pada pencegahan malaria, seperti penggunaan kelambu berinsektisida, dan pengobatan antimalaria yang aman untuk mengurangi risiko BBLR di wilayah endemik tinggi malaria. Malaria during pregnancy is one of the primary risk factors for infant malnutrition. The association between malaria and LBW incidence in high malaria-endemic regions such as Papua needs further examination to address these two health issues. This study aims to evaluate the relationship between malaria exposure during pregnancy and LBW incidence in Papua. The study used a case-control design conducted in 2024 across 21 community health centers (puskesmas) in Papua. The sample consisted of 288 respondents, including 96 cases (LBW) and 192 controls (infants with normal birth weight), selected through simple random sampling. Data were collected through medical record reviews and structured interviews using questionnaires. Data analysis was performed using chi-square tests and multivariate logistic regression. The results showed that the most frequently identified Plasmodium species were Plasmodium vivax (tertian malaria) (45.9%), followed by Plasmodium falciparum (tropical malaria) (41.0%). Malaria exposure during pregnancy most commonly occurred in the second trimester (39.3%). Malaria during pregnancy (adjusted OR = 2.09; 95% CI: 1.14–3.84) and non-use of insecticide-treated bed nets during pregnancy (adjusted OR = 1.83; 95% CI: 1.09–3.08) were identified as risk factors for LBW. Additionally, maternal age in the high-risk category was significantly associated with LBW incidence (adjusted OR = 2.18; 95% CI: 1.24–3.86). Malaria exposure during pregnancy and high-risk maternal age were factors influencing LBW incidence in Papua. Public health interventions focused on malaria prevention, such as the use of insecticide-treated bed nets and safe antimalarial treatment, are essential to reduce LBW risk in high malaria-endemic regions.",
                        "publisher": "Poltekkes Kemenkes Jayapura",
                        "sourceUrl": "https://jktp.jurnalpoltekkesjayapura.com/index.php/jktp/article/view/431/221",
                        "documentId": "6367719",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Paparan+malaria+maternal+dan+bayi+berat+lahir+rendah+studi+kasus-kontrol+di+daerah+endemik+malaria+Papua+Indonesia+Maternal+malaria+exposure+and+low+birth+weight+a+case-control+study+in+malaria-endemic+Papua+Indonesia\"",
                        "downloadUrl": "https://jktp.jurnalpoltekkesjayapura.com/index.php/jktp/article/download/431/221",
                        "journalTitle": "JURNAL KEPERAWATAN TROPIS PAPUA"
                      },
                      {
                        "doi": null,
                        "year": 2017,
                        "issue": "tions",
                        "title": "The Effectiveness of The Malaria Cadres on Drug Intake Supervision, The Use of Mosquito Net and Environmental Modification on Malaria Sufferers at Malaria Endemic Area of Public Health Center of Waipukang, Lembata District, Nusa Tenggara Timur Province",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Kristina, Ragu Harming",
                            "authorId": "300492"
                          },
                          {
                            "name": "Subekti, Sri",
                            "authorId": "387158"
                          },
                          {
                            "name": "Dachlan, Yoes Prijatna",
                            "authorId": "2278001"
                          },
                          {
                            "name": "Martini, Santi",
                            "authorId": "316597"
                          }
                        ],
                        "abstract": "Background &amp; objectives: Environmental risk factors, both physical and biological (e.g. ecology of vegetation/plants, forest), equally serve as the risk factors for Anopheles mosquitos breeding. This study was designed to determine a model of spatial mapping for the ecology of vegetation and the potential habitats for the Anopheles mosquitos. Methods: Descriptive epidemiological research was employed to carry out the project, supported with a cross-sectional design. The research took place in Kupang regency, Oesao village, lasting for 2 months from October to November 2014. The ecology of the vegetation and all habitats of the mosquitos in Oesao village were regarded as the population of the research. They were purposively sampled. Results: The vegetation mapping revealed that the land area for rice fields is 169 ha, coconut and banana tress 56.68 ha, maize 67.03 ha, vegetable plants 59.53 ha, forages 21.52 ha, and forests 16.24 ha. The results of the mapping also revealed that the mosquitos breeding sites entail paddy fields, swamps, irrigation channels, and damps. Interpretation &amp; conclution: The ecology of all types of plants mapped serves as potential habitats for the Anopheles mosquitos breeding sites. Plant ecology is quite varied in the Oesao Village, as well as extensive areas of the plant that are closely linked to inadequate growth and development of mosquitoes&nbsp; and&nbsp; specific species of Anopheles,&nbsp; An. vagus and An. annularis. Keywords:&nbsp; Ecological vegetation mapping; Breeding sites; Malaria mosquitos",
                        "publisher": "Humanistic Network for Science and Technology (Address: Cemara street 25, Ds/Kec Sukorejo, Ponorogo, East Java, Indonesia 63453)",
                        "sourceUrl": "http://heanoti.com/index.php/hn/article/view/hn1325",
                        "documentId": "761074",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"+The+Effectiveness+of+The+Malaria+Cadres+on+Drug+Intake+Supervision+The+Use+of+Mosquito+Net+and+Environmental+Modification+on+Malaria+Sufferers+at+Malaria+Endemic+Area+of+Public+Health+Center+of+Waipukang+Lembata+District+Nusa+Tenggara+Timur+Province\"",
                        "downloadUrl": "http://heanoti.com/index.php/hn/article/download/hn1325/55",
                        "journalTitle": "Health Notions"
                      },
                      {
                        "doi": "10.33846/hn.v1i3.60",
                        "year": 2017,
                        "issue": "tions",
                        "title": "The Effectiveness of The Malaria Cadres on Drug Intake Supervision, The Use of Mosquito Net and Environmental Modification on Malaria Sufferers at Malaria Endemic Area of Public Health Center of Waipukang, Lembata District, Nusa Tenggara Timur Province, Indonesia",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Ragu Harming Kristina",
                            "authorId": "2815152"
                          },
                          {
                            "name": "Sri Subekti",
                            "authorId": "387158"
                          },
                          {
                            "name": "Yoes Prijatna Dachlan",
                            "authorId": "2278001"
                          },
                          {
                            "name": "Santi Martini",
                            "authorId": "316597"
                          }
                        ],
                        "abstract": "Malaria was a disease that caused many mortalities in developing countries. In solving this problem, it was needed a focused and directed mentoring continuously. This study aimed to determine the effectiveness of malaria cadres on drug intake supervision, the use of mosquito net and environmental modification on malaria sufferers at Public Health Center of Waipukang. This research was analytic observational research with cross sectional study design. The results showed that the average knowledge of malaria cadres was still low. Malaria cadres in Public Health Center of Waipukang were less effective in monitoring the consuming of malaria drugs, mosquito nets usage, and environmental modification in their areas. Furthermore, there were 78% of people who used mosquito net properly and 54% of families obediently did environmental modification efforts. Keywords: Malaria, Malaria cadre, Drug intake supervision, Environmental development, Mosquito net",
                        "publisher": "Humanistic Network for Science and Technology (HNST)",
                        "sourceUrl": "http://heanoti.com/index.php/hn/article/view/hn1325/55",
                        "documentId": "874584",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"The+Effectiveness+of+The+Malaria+Cadres+on+Drug+Intake+Supervision+The+Use+of+Mosquito+Net+and+Environmental+Modification+on+Malaria+Sufferers+at+Malaria+Endemic+Area+of+Public+Health+Center+of+Waipukang+Lembata+District+Nusa+Tenggara+Timur+Province+Indonesia\"",
                        "downloadUrl": "http://heanoti.com/index.php/hn/article/download/hn1325/55",
                        "journalTitle": "Health Notions"
                      },
                      {
                        "doi": "10.32539/Hummed.V4l2.148",
                        "year": 2024,
                        "issue": "2",
                        "title": "Penyuluhan masyarakat dalam upaya peningkatan pengetahuan mengenai malaria dan nyamuk vektor malaria serta screening dini malaria di Kelurahan Kemelak RT 01 Kabupaten Baturaja",
                        "volume": "5",
                        "authors": [
                          {
                            "name": "Azhari, Dalilah",
                            "authorId": "7290970"
                          },
                          {
                            "name": "Handayani, Dwi",
                            "authorId": "274037"
                          },
                          {
                            "name": "Prasasty, Gita Dwi",
                            "authorId": "1050181"
                          },
                          {
                            "name": "Amalia, Ella",
                            "authorId": "608698"
                          },
                          {
                            "name": "Pariyana, Pariyana",
                            "authorId": "1237079"
                          },
                          {
                            "name": "Theresy, Elzabet",
                            "authorId": "7291007"
                          },
                          {
                            "name": "Irnanda, Andi",
                            "authorId": "7291008"
                          }
                        ],
                        "abstract": "Malaria is caused by a parasite of the genus Plasmodium that is transmitted to humans through the bite of a female Anopheles mosquito. Indonesia is the second highest ranked region in Asia with 214 regencies/cities in Indonesia that are still malaria endemic spread from Sumatra to Papua. Knowledge is one of the important components in preventing malaria transmission. The purpose of this service was to assist and screen for malaria in the context of early detection of malaria in the community and to increase public knowledge about malaria and malaria mosquito vectors. Activities were carried out by providing pretests followed by education and socialization of malaria and early screening of malaria cases with Rapid Diagnostic Test (RDT) examination. Education and socialization events were held at RT 01 Kemelak Baturaja using LCD projector media as well as posters and pamphlets. A total of 83 people attended the counseling event consisting of 37 men and 46 women and 50 people carried out early detection of malaria RDT examination. Pretest results obtained knowledge that was still lacking in knowledge of malaria and malaria vectors by 78% and good knowledge by 22%. There was an increase in knowledge in the posttest held after counseling and education where lack of knowledge was 44% and good knowledge to 56%. On examination with RDT found no positive cases of malaria. Education and socialization in the community about the symptoms of malaria and its vectors can increase awareness of the disease and prevent malaria vector mosquito bites. Therefore, education and assistance are an important part of efforts to prevent and reduce cases that support malaria elimination.",
                        "publisher": "Fakultas Kedokteran Universitas Sriwijaya",
                        "sourceUrl": "https://hummed.ejournal.unsri.ac.id/index.php/HummedJ/article/view/148/83",
                        "documentId": "4268440",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Penyuluhan+masyarakat+dalam+upaya+peningkatan+pengetahuan+mengenai+malaria+dan+nyamuk+vektor+malaria+serta+screening+dini+malaria+di+Kelurahan+Kemelak+RT+01+Kabupaten+Baturaja\"",
                        "downloadUrl": "https://hummed.ejournal.unsri.ac.id/index.php/HummedJ/article/download/148/83",
                        "journalTitle": "Jurnal Pengabdian Masyarakat: Humanity and Medicine"
                      },
                      {
                        "doi": "10.33024/jkpm.v7i7.15163",
                        "year": 2024,
                        "issue": "7",
                        "title": "Pelatihan dan Penyegaran Kader Malaria Melalui Petugas Kesehatan tentang Skrining Pemeriksaan Malaria melalui Pemeriksaan Rapid Diagnostic Test (RDT) dan Slide Malaria",
                        "volume": "7",
                        "authors": [
                          {
                            "name": "Bahrah, Bahrah",
                            "authorId": "1508369"
                          },
                          {
                            "name": "Erawati, Deasy",
                            "authorId": "4093043"
                          }
                        ],
                        "abstract": "ABSTRAK Pada beberapa Puskesmas di daerah endemis dengan jumlah penderita malaria yang tinggi, seringkali dilakukan skrening malaria pada masyarakat yang melibatkan kader dari masyarakat setempat untuk pemeriksaan RDT dan membuat sediaan apusan darah. Berdasarkan studi pendahuluan yang telah dilakukan oleh pengabdi Puskesmas Amban pada Tahun 2024 Puskesmas Amban belum memiliki kader Malaria dan studi wawancara pada petugas penangung jawab program malaria, sebagian besar mengatakan bahwa belum pernah mendapatkan pelatihan tentang cara pembuatan hapusan darah. Tujuan dari pelatihan ini adalah meningkatkan pengetahuan dan keterampilan petugas kesehatan dalam melakukan diagnosis malaria menggunakan RDT dan pembuatan hapusan darah tepi. Metode dalam pengabdian ini adalah dengan melakukan pelatihan dan penyegaran kader malaria melalui petugas kesehatan dengan kegiatan penyuluhan dan pendampingan pemeriksaan RDT dan pembuatan slide malaria atau hapusan darah menggunakan media bantu media audiovisual yang dilakukan selama 3 hari. Setelah dilakukan pelatihan dan penyegaran akan dievaluasi hasil pelatihan yang telah diberikan dengan menggunakan lembar observasi atau lembar cheklist cara melakukan pemeriksaan RDT dan pembuatan hapusan darah. Hasil nilai rata-rata skor keterampilan petugas kesehatan tentang pemeriksaan RDT sebelum diberikan pelatihan yaitu 85,3 dan meningkat menjadi 97,2 sedangkan skor keterampilan petugas kesehatan tentang pengambilan hapusan darah tepi sebelum pelatihan yaitu 75 dan setelah pelatihan meningkat menjadi 93,7 setelah diberikan pelatihan. Kesimpulan penyegaran dan pelatihan petugas kesehatan efektif menggunakan media bantu video dan demonstrasi dapat meningkatkan keterampilan petugas kesehatan dalam melakukan pemeriksaan RDT dan pembuatan hapusan darah tepi. Kata Kunci: Kader Malaria, Petugas Kesehatan, Skrining Pemeriksaan Malaria, Rapid Diagnostic Test (RDT) dan Slide Malaria ABSTRACT In several Community Health Centers in endemic areas with a high number of malaria sufferers, malaria screening is often carried out in the community involving cadres from the local community for RDT examinations and making blood smear preparations. Based on a preliminary study conducted by Amban Community Health Center staff in 2024, Amban Community Health Center does not yet have Malaria cadres and interview studies of officers in charge of the malaria program, the majority said that they had never received training on how to make blood smears. The aim of this training is to increase the knowledge and skills of health workers in diagnosing malaria using RDT and making peripheral blood smears. The method of this service is to carry out training and refreshment of malaria cadres through health workers with outreach activities and assistance with RDT examinations and making malaria slides or blood smears using audiovisual media which is carried out for 3 days. After training and refreshment, the results of the training provided will be evaluated using an observation sheet or checklist on how to carry out RDT examinations and make blood smears. The average value of the skill score of health workers regarding RDT examination before being given training was 85.3 and increased to 97.2, while the skill score of health workers regarding taking peripheral blood smears before training was 75 and after training increased to 93.7 after being given training . Conclusion: Refreshing and training health workers effectively using video media and demonstrations can improve the skills of health workers in carrying out RDT examinations and making peripheral blood smears. Keywords: Malaria Cadres, Health Workers, Malaria Screening, Rapid Diagnostic Test (RDT) and Malaria Slides",
                        "publisher": "Universitas Malahayati Lampung",
                        "sourceUrl": "https://ejurnalmalahayati.ac.id/index.php/kreativitas/article/view/15163/Download%20Artikel",
                        "documentId": "4596800",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Pelatihan+dan+Penyegaran+Kader+Malaria+Melalui+Petugas+Kesehatan+tentang+Skrining+Pemeriksaan+Malaria+melalui+Pemeriksaan+Rapid+Diagnostic+Test+RDT+dan+Slide+Malaria\"",
                        "downloadUrl": "https://ejurnalmalahayati.ac.id/index.php/kreativitas/article/download/15163/Download%20Artikel",
                        "journalTitle": "Jurnal Kreativitas Pengabdian Kepada Masyarakat (PKM)"
                      },
                      {
                        "doi": null,
                        "year": 2002,
                        "issue": "3",
                        "title": "GAMBARAN KLINIK PENDERITA MALARIA YANG DIRAWAT DI RSU BANYUMAS TAHUN 2OOO. MEI 2OO2 CLINICAL FEATARES OF MALARIA PATIENTS THAT HOSPITALIZED IN BANYAMAS GENERAL HOSPITAL 2OOO-MAY 2OO2",
                        "volume": "2",
                        "authors": [
                          {
                            "name": "Arjadi, Fitranto",
                            "authorId": "436774"
                          },
                          {
                            "name": "Hadiantoro, Felix",
                            "authorId": "436773"
                          },
                          {
                            "name": "SDL, Agung",
                            "authorId": "437032"
                          }
                        ],
                        "abstract": "Malaria masih merupakan masalah kesehatan yang penting di Indonesia.D i Jawa Tengah terdapat beberapa daerah endemic malaria dan tak termasuk Banyumas Tapi sejak tahun 2000, kasus malaria di Banyumas sangat meningkat sehingga menjadikan Banyumas sebagai daerah endemis baru. Tujuan penelitianu ntuk mengetahui pola klinik penderita malaria yang dirawat di Rumah Sakit Umum Banyumas. Penelitian bersifat deskriptif retrospektif dengan mencatat data rekam medis penderita malaria yang dirawat dari Januari 2000 - Mei 2002. Selama periode 29 bulan, tercatat 223 penderita malaria yang dirawat di RSU Banyumas yang terdiri dari 130 pria (58%) dan 93 wanita( 42%). Usia p odukrif (l5-44 tahun) adalah yang sering terjangkit malaria (52%). Lebih dari 90% (102) pasien dari Kabupaten Banyurnas dan sisanya dari Kabupaten sekitarnya. Insidens terbanyak terjadi pada bulan Desember 2001. Empat besar manifestasi klinik adalah demam (100%), menggigil (47Vo), sakit kepala 29 (33%) dan mual 22 (25%). H asil laboratorium adalah sebagian besar penderita anemia 63 (75%). Penyebab terbanyak adalah Plasmodium falciparum ll4 (49%). Fansidar adalah terapi tunggal yang terbanyak (8%) dan Chloroquin Primaquin sebagai terapi kombinasi yang terbanyak (38%).",
                        "publisher": "Pembangunan Pedesaan",
                        "sourceUrl": "http://journal.lppm.unsoed.ac.id/ojs/index.php/Pembangunan/article/view/41",
                        "documentId": "308324",
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                      {
                        "doi": "10.56338/pjkm.v11i2.2026",
                        "year": 2021,
                        "issue": "2",
                        "title": "The Peran Kader Malaria di Wilayah Kerja Puskesmas Bagaiserwar Sarmi Timur: The Role of Malaria Cadres in the Work Area of Health Centers in Bagaiserwar East Sarmi",
                        "volume": "11",
                        "authors": [
                          {
                            "name": "Lappra, Karenina Gabriela",
                            "authorId": "2124692"
                          },
                          {
                            "name": "Untung Sudharmono",
                            "authorId": "2551438"
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                        ],
                        "abstract": "Malaria adalah penyakit endemik yang sampai saat ini belum dapat diselesaikan. Kasus malaria banyak terjadi di provinsi Papua hal ini dikarenakan kondisi lingkungan fisik daerah Papua yang panas dan lembab. Pemerintah daerah mengupayakan pengendalian dan penanganan malaria melalui program pelatihan bagi kader malaria. Tujuan penelitian ini adalah untuk melihat peran kader malaria di wilayah kerja Puskesmas Bagaiserwar Sarmi Timur. Metode penelitian yang digunakan adalah deskriptif retrospektif. Populasi dan sampel adalah kader malaria yang berjumlah 11 orang di area kerja Puskesmas Bagaiserwas. Hasil penelitian yang didapatkan adalah terdapat 11 orang kader yang rata-rata berpendidikan SMA dengan jenis kelamin perempua dan rentang usia 36- 45 tahun. Kasus malaria tahun 2019 sebanyak 582 orang dan tahun 2020 sebanyak 1054 orang. Penderita malaria didapati lebih banyak laki-laki dengan rentang usia 15-64 tahun. Diagnosa jenis malaria dilakukan dengan metode Rapid Diagnostic Test didapati jenis terbanyak pada tahun 2019 dan 2020 adalah P.Falciparum sebanyak 397 orang dan 546 orang. Peran pendistribusian obat dan pengawasan obat dilakukan selama 14 hari dengan obat Artimisin Combination Therapy dan primaquine, serta dilakukan pengendalian vector malaria. Tahun 2019 menunjukkan penurunan angka tetapi tahun 2020 terjadi kenaikan akibat dari pandemik Covid-19 sehingga peran kader tidak dilakukan dengan maksimal.",
                        "publisher": "Fakultas Kesehatan Masyarakat, Universitas Muhammadiyah Palu",
                        "sourceUrl": "https://jurnal.unismuhpalu.ac.id/index.php/PJKM/article/view/2026/1710",
                        "documentId": "2391788",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"The+Peran+Kader+Malaria+di+Wilayah+Kerja+Puskesmas+Bagaiserwar+Sarmi+Timur+The+Role+of+Malaria+Cadres+in+the+Work+Area+of+Health+Centers+in+Bagaiserwar+East+Sarmi\"",
                        "downloadUrl": "https://jurnal.unismuhpalu.ac.id/index.php/PJKM/article/download/2026/1710",
                        "journalTitle": "Promotif : Jurnal Kesehatan Masyarakat"
                      },
                      {
                        "doi": "10.56338/mppki.v4i4.1827",
                        "year": 2021,
                        "issue": "4",
                        "title": "Analisis Strategi Pengendalian Vektor Malaria di Kabupaten Bangka Barat: Analysis of Malaria Vector Control Strategies in West Bangka Regency",
                        "volume": "4",
                        "authors": [
                          {
                            "name": "Asmiani",
                            "authorId": "4084656"
                          },
                          {
                            "name": "Yuanita Windusari",
                            "authorId": "4084657"
                          },
                          {
                            "name": "Hamzah Hasyim",
                            "authorId": "278540"
                          }
                        ],
                        "abstract": "Kabupaten Bangka Barat merupakan satu-satunya kabupaten di Provinsi Kepulauan Bangka Belitung yang belum mencapai eliminasi malaria. Hal ini disebabkan karena masih ditemukan kasus malaria indigenous di Kabupaten Bangka Barat. Data pelaporan E-SISMALpada tahun 2020 di Kabupaten Bangka Barat menunjukkan bahwa kasus malaria indigenous berjumlah 8 kasus dan data pengendalian vektor malaria yang kosong atau tidak ada laporan. Penelitian ini bertujuan untuk menganalisis strategi pengendalian vektor malaria di Kabupaten Bangka Barat dalam rangka eliminasi malaria. Penelitian ini jenis penelitian kualitatif. Penelitian dilakukan di Kabupaten Bangka Barat pada bulan Mei sampai dengan Juni 2021. Penentuan informan penelitian dilakukan secara purposive. Pengumpulan data dilakukan melalui di focus group discussion, wawancara mendalam, observasi partisipatif dan photovoice. Validasi data yang digunakan berupa triangulasi metode dan sumber. Selanjutnya, dianalisis menggunakan aplikasi Nvivo 12 Plus for windows. Faktor-Faktor yang sering ditekankan oleh informan dalam penelitian sebanyak 8 Faktor. Faktor perilaku penambang (26 references), topografi wilayah (14 references), adaya pertemuan lintas sektor (6 references), dukungan lintas sektor, lintas program (5 references), kerjasama TNI/polri (5 references), keterbatasan SDM entomologi dan epidemiologi (18 references), keterbatasan dana (20 references) dan terbatasnya perlengkapan IRS (13 references). Penelitian ini menyimpulkan bahwa pelaksanaan strategi pengendalian vektor malaria di Kabupaten Bangka Tengah belum maksimal. Hal ini disebabkan beberapa faktor yaitu topografi wilayah, perilaku penambang, pertemuan lintas sektor yang belum berdampak langsung pada program malaria, advokasi kepada TNI dan Polri, keterbatasan SDM entomology dan epidemiologi, dana dan perlengkapan IRS.",
                        "publisher": "Fakultas Kesehatan Masyarakat, Universitas Muhammadiyah Palu",
                        "sourceUrl": "https://jurnal.unismuhpalu.ac.id/index.php/MPPKI/article/view/1827/1677",
                        "documentId": "2483574",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Analisis+Strategi+Pengendalian+Vektor+Malaria+di+Kabupaten+Bangka+Barat+Analysis+of+Malaria+Vector+Control+Strategies+in+West+Bangka+Regency\"",
                        "downloadUrl": "https://jurnal.unismuhpalu.ac.id/index.php/MPPKI/article/download/1827/1677",
                        "journalTitle": "Media Publikasi Promosi Kesehatan Indonesia (MPPKI)"
                      },
                      {
                        "doi": "10.25026/mpc.v14i1.562",
                        "year": 2021,
                        "issue": null,
                        "title": "Pola Penggunaan Antimalaria pada Pasien Malaria di Instalasi Rawat Inap RSUD Jayapura Periode Januari–Desember 2020: Pattern of Antimalarial Drug in Malaria Patients in the Jayapura Hospital Inpatient Installation During January – Desember 2020",
                        "volume": "14",
                        "authors": [
                          {
                            "name": "Kornelius Yustico Trimedya Purba",
                            "authorId": "4295866"
                          },
                          {
                            "name": "Vita Olivia Siregar",
                            "authorId": "5557455"
                          },
                          {
                            "name": "Niken Indriyanti",
                            "authorId": "4295845"
                          }
                        ],
                        "abstract": "The Jayapura city is one of the endemic areas of malaria in the province of Papua. The use of antimalarial medicine in hospitals has adjusted to a pattern of successful therapy in previous years. The study aims to know the pattern of antimalarial use in malarial patients at the jayapura hospital installation in January - December 2020. The method of research used is a non-experimental study with a descriptive design from the retrospective data that sources the data of the treatment records of malaria patients. Studies show that the age of 17-25 became the most common age to develop malaria by 38 patients (38%). The male group became dominant compared with the female population of 60 (60%). Students are the primary target of malaria with 38 patients (38%). Tropical malaria is the most common of 62 patients (62%). Combination of primaquine + artesunate therapy reaches (66%). For precise indications and precise intervals of time entering into the precision of the treatment of malaria with accuracy (100%) while for right the medicine has a percentage (92%) and the right dosage has a percentage (99%) so it can be maximized in the future.",
                        "publisher": "Fakultas Farmasi, Universitas Mulawarman, Samarinda, Indonesia",
                        "sourceUrl": "https://prosiding.farmasi.unmul.ac.id/index.php/mpc/article/view/562/488",
                        "documentId": "2490737",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Pola+Penggunaan+Antimalaria+pada+Pasien+Malaria+di+Instalasi+Rawat+Inap+RSUD+Jayapura+Periode+JanuariDesember+2020+Pattern+of+Antimalarial+Drug+in+Malaria+Patients+in+the+Jayapura+Hospital+Inpatient+Installation+During+January++Desember+2020\"",
                        "downloadUrl": "https://prosiding.farmasi.unmul.ac.id/index.php/mpc/article/download/562/488",
                        "journalTitle": "Proceeding of Mulawarman Pharmaceuticals Conferences"
                      },
                      {
                        "doi": "10.22146/jkesvo.47741",
                        "year": 2020,
                        "issue": "1",
                        "title": "Pemanfaatan UKS dalam Pencegahan Anemia pada Anak Sekolah Dasar di Daerah Endemik Malaria",
                        "volume": "5",
                        "authors": [
                          {
                            "name": "Khairunnisa Khairunnisa",
                            "authorId": "3780066"
                          },
                          {
                            "name": "Rostika Flora",
                            "authorId": "2409619"
                          },
                          {
                            "name": "Haerawati Idris",
                            "authorId": "2028254"
                          },
                          {
                            "name": "Nurlaili Nurlaili",
                            "authorId": "454269"
                          },
                          {
                            "name": "Ikhsan Ikhsan",
                            "authorId": "285575"
                          }
                        ],
                        "abstract": "Latar Belakang: Usia yang rawan terkena penyakit terjadi pada anak-anak dan remaja. Pemerintah berusaha menciptakan lingkungan sehat, menyebarkan pengetahuan kesehatan dan menyediakan fasilitas layanan kesehatan melalui UKS. Di daerah endemik malaria, anak sekolah dasar rentan mengalami anemia. Kondisi lingkungan endemik dan kurangnya asupan nutrisi meningkatkan terjadinya anemia. Di Kabupaten Seluma tahun 2019 didapatkan 21,08% dari 137 anak sekolah dasar menderita anemia.Tujuan: Melakukan analisis pemanfaatan UKS dalam pencegahan anemia pada anak sekolah dasar di daerah endemik malaria.Metode: Penelitian kualitatif, pemilihan informan secara purposive. Pengambilan data dengan wawancara mendalam kepada 10 informan, observasi dan telaah dokumen. Triangulasi sumber, metode dan data. Analisis data dengan cara mereduksi, menyajikan, menarik kesimpulan dan memverifikasi.Hasil: Pemanfaatan UKS melalui pendidikan kesehatan dilakukan dengan memberikan informasi kesehatan oleh guru dan petugas kesehatan. Pemanfaatan UKS dalam pelayanan kesehatan untuk mencegah anemia dengan memantau status gizi anak sekolah dasar dan pemeriksaan konjungtiva, namun belum maksimal karena hanya dilakukan sekali setahun dan belum ada pengecekan kadar hemoglobin. Sarana dan prasarana program UKS untuk pemantauan anemia belum lengkap dan pemanfaatannya terbatas.Kesimpulan: Pemanfaatan UKS dalam pencegahan anemia belum optimal. Sekolah diharapkan meningkatkan pemahaman guru tentang pencegahan anemia melalui kerjasama dengan Puskesmas.",
                        "publisher": "Sekolah Vokasi Universitas Gadjah Mada",
                        "sourceUrl": "https://jurnal.ugm.ac.id/jkesvo/article/view/47741/27172",
                        "documentId": "1483384",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Pemanfaatan+UKS+dalam+Pencegahan+Anemia+pada+Anak+Sekolah+Dasar+di+Daerah+Endemik+Malaria\"",
                        "downloadUrl": "https://jurnal.ugm.ac.id/jkesvo/article/download/47741/27172",
                        "journalTitle": "Jurnal Kesehatan Vokasional"
                      },
                      {
                        "doi": "10.12928/dpphj.v14i1.1813",
                        "year": 2020,
                        "issue": "1",
                        "title": "Faktor Sikap dan Perilaku yang Berhubungan dengan Malaria di Wilayah Kerja Puskesmas Banjarmangu I Banjarnegara",
                        "volume": "14",
                        "authors": [
                          {
                            "name": "Siti, Zulaikhah Thomas",
                            "authorId": "1456755"
                          },
                          {
                            "name": "Sahariyani, Menik",
                            "authorId": "368359"
                          },
                          {
                            "name": "H, Prasetyo Bhakti",
                            "authorId": "1456756"
                          },
                          {
                            "name": "M, David Akbar",
                            "authorId": "1456757"
                          },
                          {
                            "name": "Rani, Mustika",
                            "authorId": "1419828"
                          }
                        ],
                        "abstract": "Background: Malaria is an infectious disease caused by Plasmodium and transmitted to humans through the bite of infected female Anopheles. Characteristics of a person affecting the pattern of life that can contribute to the occurrence, attitudes and behaviors that is less attention to environmental related to Anopheles population can contribute to the malaria. In Indonesia, malaria is found in almost all regions. Some provinces are still malaria endemic areas, both low, medium and high. The number of malaria-based illnesses in API in Central Java in 2014 was recorded at 0.05 per 1000 population, and indigenous cases were still found in 5 districts, namely Purworejo, Banjarnegara, Purbalingga, Banyumas and Kebumen. Banjarnegara is one of the district in Central Java which is an endemic area of malaria, the patients as many 247, of that 102 patients in Puskesmas Banjarmangu I, Banjarmangu. This study aims to related factors attitude and behavior to the malaria. Method: The research was observasional analytic with case control design. The sample of 34 cases and 34 controls, with simple random sampling. Attitudes and behaviors were examined using logistic regression. Results: The result of study showed that attitude (p = 0,015; OR = 3,656; 95% CI = 1,292-10,344) and behavior (p = 0,031; OR = 2,962; 95% CI = 1,104-7,942) were significance relationship with malaria. Conclusion: Attitude and behavior related to the malaria in working area of Banjarmangu I, Banjarnegara. The dominant factors was attitude.",
                        "publisher": "Universitas Ahmad Dahlan",
                        "sourceUrl": "http://journal2.uad.ac.id/index.php/dpphj/article/view/1813/pdf",
                        "documentId": "1590402",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Faktor+Sikap+dan+Perilaku+yang+Berhubungan+dengan+Malaria+di+Wilayah+Kerja+Puskesmas+Banjarmangu+I+Banjarnegara\"",
                        "downloadUrl": "http://journal2.uad.ac.id/index.php/dpphj/article/download/1813/pdf",
                        "journalTitle": "Disease Prevention and Public Health Journal"
                      },
                      {
                        "doi": "10.20473/ijph.v15i1.2020.71-80",
                        "year": 2020,
                        "issue": "1",
                        "title": "ANALYSIS OF THE ROLE OF OFFICERS IN IMPORT MALARIA CONTROL IN PANDEAN PUSKESMAS DISTRICT TRENGGALEK",
                        "volume": "15",
                        "authors": [
                          {
                            "name": "Rike Dwi Anggraini",
                            "authorId": "3108053"
                          },
                          {
                            "name": "R Azizah",
                            "authorId": "3108057"
                          }
                        ],
                        "abstract": "ABSTRACKMalaria remains a health problem in the world. In Indonesia, malaria is one of the causes of the outbreak in the province of East Java. Pandean is a public health center thatcounted for large numbers in cases of malaria in Trenggalek. Although Pandean public health center has conducted treatment of imported malaria, the cases are still high. The purpose of this research is to analyze the role of officers in the implementation of discovery and treatment program of imported malaria, including the availability of human resources, training, knowledge and understanding of the auth. This research is a descriptive observational research. Respondents in the study were 8 people, including Program Managers Of Malaria, 2 Microscopic and 5 JMD in Pandean public health center area. Data retrieval was implemented with interviews against the respondents and secondary data searches in Pandean. The results showed they have the good availability of human resources, but there is no the head of JMD yet. Officer of the discovery and treatment of malaria have had a good knowledge, they have received training, and also have a good working understanding of auth, malaria program officer Role has been good, but they need to keep the improvements including recruitment of the head of JMD to avoid duplicate tasks so that the control of imported malaria can run optimally. Keywords: Malaria import control, The role of officers, Public Health Center",
                        "publisher": "Universitas Airlangga",
                        "sourceUrl": "https://e-journal.unair.ac.id/IJPH/article/view/8257/pdf",
                        "documentId": "1609416",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"ANALYSIS+OF+THE+ROLE+OF+OFFICERS+IN+IMPORT+MALARIA+CONTROL+IN+PANDEAN+PUSKESMAS+DISTRICT+TRENGGALEK\"",
                        "downloadUrl": "https://e-journal.unair.ac.id/IJPH/article/download/8257/pdf",
                        "journalTitle": "The Indonesian Journal of Public Health"
                      },
                      {
                        "doi": "10.26714/jkmi.15.1.2020.35-41",
                        "year": 2020,
                        "issue": "1",
                        "title": "Pengasapan Kandang Ternak: Perilaku Potensial Peningkatan Risiko Gigitan Anopheles pada Penduduk Daerah Endemik Malaria",
                        "volume": "ume",
                        "authors": [
                          {
                            "name": "Husniyatun Nisrina",
                            "authorId": "2901667"
                          },
                          {
                            "name": "Didik Sumanto",
                            "authorId": "5710496"
                          },
                          {
                            "name": "Sri Widodo",
                            "authorId": "2574014"
                          }
                        ],
                        "abstract": "Latar Belakang: Vektor malaria terverifikasi di Purworejo adalah Anopheles aconitus dan Anopheles maculatus. Vektor bersifat zooantropofilik yang lebih menyukai darah kambing dibandingkan manusia. Kondisi ini menjadi peluang positif bagi upaya pengendalian malaria melalui pengalihan serangan gigitan Anopheles dari manusia ke ternak. Tujuan: Untuk mengeksplorasi kebiasaan pengelolaan ternak pada masyarakat endemik malaria. Metode: Survei dilakukan pada penduduk sekitar domisili penderita malaria di daerah endemik malaria Desa Jatirejo Kaligesing Purworejo. Variabel pengamatan yaitu jarak kandang dengan pemukiman, jumlah kambing dalam kandang, perilaku pengusiran nyamuk. Etik penelitian dikeluarkan oleh Komisi Etik Penelitian Kesehatan Fakultas Kesehatan Masyarakat Universitas Muhammadiyah Semarang. Hasil: Seluruh kandang ternak berjarak lebih dari 10 m dari tempat tinggal. Jumlah kambing etawa tiap kandang berkisar antara 2 – 3 ekor. Tidak ada yang membalurkan insektisida pada hewan ternak untuk mencegah serangan nyamuk. Perilaku pengusiran nyamuk dengan membakar jerami di sekitar kandang ternak 75.3%. Simpulan : Upaya pengalihan serangan gigitan Anopheles yang dilakukan adalah memelihara ternak kambing ditempatkan pada kandang berjarak lebih 10 meter dari rumah hunian. Pengusiran nyamuk metode pengasapan dengan membakar jerami atau rumput kering di malam hari potensial efektif meminimalkan serangan pada ternak namun perlu diwaspadai berbaliknya nyamuk ke area pemukiman penduduk.",
                        "publisher": "Universitas Muhammadiyah Semarang",
                        "sourceUrl": "https://jurnal.unimus.ac.id/index.php/jkmi/article/view/5834/4860",
                        "documentId": "1692258",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Pengasapan+Kandang+Ternak+Perilaku+Potensial+Peningkatan+Risiko+Gigitan+Anopheles+pada+Penduduk+Daerah+Endemik+Malaria\"",
                        "downloadUrl": "https://jurnal.unimus.ac.id/index.php/jkmi/article/download/5834/4860",
                        "journalTitle": "Jurnal Kesehatan Masyarakat Indonesia Volume 15. No. 1. Tahun 2020"
                      },
                      {
                        "doi": "10.34312/jebj.v2i2.2590",
                        "year": 2020,
                        "issue": "2",
                        "title": "Effectiveness Test Of Rambusa (Passiflora foetida L.) Fruit Extract As A Liquid Anti- Mosquito On The Development Vector Of Malaria Mosquito (Anopheles sp.)",
                        "volume": "2",
                        "authors": [
                          {
                            "name": "Gregorius Olla",
                            "authorId": "3388492"
                          },
                          {
                            "name": "Thobias Hasan",
                            "authorId": "3388493"
                          },
                          {
                            "name": "Anggreini D.N Rupidara",
                            "authorId": "1571157"
                          }
                        ],
                        "abstract": "Rambusa (Passiflora foetida L.) (Passifloraceae) is a plant that contains larvicide bioactive compounds, namely acetogenin, polyphenols, ethanol, citric acid, alkaloids, tannins, coumarin, procyanidin, triterpenoids, flavonoids, and saponins (Kaerati dkk, 2015). The purpose of this research was to determine the effectiveness of rambusa (Passiflora foetida L.) plant extract as liquid mosquito repellent against the development vector of malaria mosquitoes (Anopheles sp.) and to determine the most effective concentration to produce liquid scale insecticide LAB products.This research was conducted at LAB. Undana Bio-Science Kupang uses a simple experimental RAL method with 4 treatments and 3 replications to obtain 15 experimental units. Variation in concentration of 0% (negative / positive control) 10%, 20%, 40% of 1000 ppm. Data analysis using BSLT probit analysis to determine the LC50 value. The results showed that the administration of rambusa (Passiflora foetida L.) fruit extract effectively killed larva at concentrations 100 ppm by 23,3% from 10 larva, concentration of 200 ppm at 65,7%, from 10 larva, concentration of 400 ppm at 100% of 10 larva. The results of probit analysis obtained a relationship curve log concentration to the probit value with a linear curve equation y = 8,4x – 13,79. The LC50 value obtained was 173,78 ppm with a significance value of 0,212 0,05 so that the concentration of 173,78 ppm was most effectively used as a liquid insecticide on the LAB scale.",
                        "publisher": "Fakultas MIPA Universitas Negeri Gorontalo",
                        "sourceUrl": "https://ejurnal.ung.ac.id/index.php/edubiosfer/article/view/2590/2109",
                        "documentId": "1731944",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"Effectiveness+Test+Of+Rambusa+Passiflora+foetida+L+Fruit+Extract+As+A+Liquid+Anti-+Mosquito+On+The+Development+Vector+Of+Malaria+Mosquito+Anopheles+sp\"",
                        "downloadUrl": "https://ejurnal.ung.ac.id/index.php/edubiosfer/article/download/2590/2109",
                        "journalTitle": "Jambura Edu Biosfer Journal"
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                      {
                        "doi": "10.26618/aimj.v1i2.2758",
                        "year": 2018,
                        "issue": "2",
                        "title": "REGENERASI DENDRIT SEL GANGLION RETINA: PERAN INSULIN UNTUK MENGEMBALIKAN PENGLIHATAN PADA GLAUKOMA",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Nurul Azizah",
                            "authorId": "3850491"
                          },
                          {
                            "name": "Sisca Sisca",
                            "authorId": "3850492"
                          },
                          {
                            "name": "Rasiha Rasiha",
                            "authorId": "3850493"
                          }
                        ],
                        "abstract": "Glaukoma is a leading cause of irreversible blindness worldwide. This disease is associated with characteristic damage to the optic nerve and permanent retinal ganglion cell (RGC) degeneration. A crucial step towards circuit repair in glaucoma is to promote damaged RGCs to regenerate not only axons, but also dendrites to successfully reconnect with their synaptic partners. The latest research showed that insulin signalling has the capacity to regenerate dendrites dan injured synapses, therefore the use of insulin raises a new paradigm as a new pro-regenerative therapeutic target for the disease of glaucoma. This literature review is made using literature searching of valid journals with inclusion and exclusion criteria. On the experiment of insulin’s effectivity, it is valued using 4 indicators; promote dendrite regeneration, restore synaptic density, rescue retinal function, robust neuronal survival. Based on in vivo experiment, insulin endowed with the ability to effectively restore dendritic morphology thus enhancing the function and survival of RGC through mTORC1 (mammalian target of rapamycin complex 1) and mTORC2 (mammalian target of rapamycin complex 2) signalling, this supports that that it can be promising therapeutic targets to counter progressive RGC neurodegeneration and vision loss in glaucoma.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/2758/2188",
                        "documentId": "1839899",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"REGENERASI+DENDRIT+SEL+GANGLION+RETINA+PERAN+INSULIN+UNTUK+MENGEMBALIKAN+PENGLIHATAN+PADA+GLAUKOMA\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/2758/2188",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v3i1.2745",
                        "year": 2019,
                        "issue": "1",
                        "title": "POTENSI SEL T MOBIL HER2 SPESIFIK MODIFIKASI CRISPR / CAS9 PD-1 / PD-L1 PEMBLOKIRAN SEBAGAI INOVASI TERAPI UVEAL MELANOMA",
                        "volume": "2",
                        "authors": [
                          {
                            "name": "Muhammad AH Khoiruddin",
                            "authorId": "3850497"
                          },
                          {
                            "name": "Yusi Windya Febriyanti",
                            "authorId": "3850498"
                          },
                          {
                            "name": "Nafia Amalia",
                            "authorId": "3850499"
                          }
                        ],
                        "abstract": "Uveal Melanoma (UM) is the primary intraocular tumor most commonly found in adults. The combination of therapy, Brachytherapy, surgery, Tranpupillary Thermal Therapy (TTT), Proton Beam Theraphy has not produced satisfactory results. The discovery of HER2 receptors expressed by UM cells can be used as a specific antigen target for the treatment of CAR T-celss. However, the effectiveness of CAR T-cell immunotherapy in tumors results in immunosuppressive T cells caused by an increase in Programmed cell Death Ligand-1 (PD-L1). This literature review demonstrates the success of HER2-specific CART T Cells as UM therapeutic efforts capable of eliminating tumor cells. In addition, CRSPR / Cas9 PD-1 / PD-L1-blocking modified HER2-specific CAR T cells can be a gene innovation in UM sufferers. Further clinical trials are needed to prove the effectiveness of CRISPR / Cas9 PD-1 / PD-L1-Blocking modified HER2-specific CAR T Cells in the treatment of UM patients.Keywords: Uveal melanoma, CAR T cell, reseptor HER",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/2745/2179",
                        "documentId": "1839900",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"POTENSI+SEL+T+MOBIL+HER2+SPESIFIK+MODIFIKASI+CRISPR++CAS9+PD-1++PD-L1+PEMBLOKIRAN+SEBAGAI+INOVASI+TERAPI+UVEAL+MELANOMA\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/2745/2179",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v3i1.4154",
                        "year": 2020,
                        "issue": "1",
                        "title": "FREMANEZUMAG (FREMANEZUMAB DAN MAGNESIUM) SEBAGAI INOVASI DALAM PENCEGAHAN SERANGAN MIGRAIN",
                        "volume": "3",
                        "authors": [
                          {
                            "name": "Putri Windiana Rahman",
                            "authorId": "3850517"
                          },
                          {
                            "name": "Safira Qalbissilmi",
                            "authorId": "3850532"
                          }
                        ],
                        "abstract": "Migrain adalah penyakit yang dirasakan seumur hidup, sering berulang dan menghambat aktivitas penderitanya. Patogenesis migrain dispekulasikan berada pada sistem trigeminal dengan aktivitas neurotransmitter seperti CGRP, glutamat, serotonin dan nitrit oksida, vasodilatasi arteri serebri serta inflamasi neurogenic. Tata laksana migrain dengan konsumsi triptan didapatkan efek samping yang tak terduga antara penggunaan obat tersebut dengan kejadian iskemik serebrovaskular, jantung coroner dan hipertensi berat. Saat ini, telah ditemukan tata laksana terbaru dan sudah diakui untuk penyakit migrain. Pengobatan yang berhubungan dengan CGRP dan senyawa magnesium menawarkan manfaat yang cukup besar dibandingkan obat-obatan yang sudah ada.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/4154/pdf",
                        "documentId": "1839901",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"FREMANEZUMAG+FREMANEZUMAB+DAN+MAGNESIUM+SEBAGAI+INOVASI+DALAM+PENCEGAHAN+SERANGAN+MIGRAIN\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/4154/pdf",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v1i1.2769",
                        "year": 2018,
                        "issue": "1",
                        "title": "PENGARUH TERAPI BEKAM TERHADAP PENURUNAN KADAR KOLESTEROL PADA PASIEN HYPERCHOLESTEROLEMIA DI RUMAH SEHAT AL-HIJAMAAH TAHUN 2014/2015",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Sitti Aulia Hidayat",
                            "authorId": "3850534"
                          },
                          {
                            "name": "Salsa Anggeraini",
                            "authorId": "3850535"
                          },
                          {
                            "name": "TaufiQul Hidayat",
                            "authorId": "3850536"
                          }
                        ],
                        "abstract": "To know the effect of cupping therapy to decrease cholesterol levels in patients at Home Healthy hiperkolestrolemia Al-hijamaah in the year 2014/2015. Research observational analytic-numerical categorical pairs. Samples were hypercholesterolemic patients at Home Healthy Al-hijamaah in 2014/2015. Taken by using non-probability sampling technique with purposive sampling method. The primary data obtained directly from respondents, and analyzed by paired T test. The number of samples involved in this study were 45 respondents. Most of the samples were aged 20-45 years were 28 respondents (62.2%), female 27 respondents (60%), and average cholesterol levels before cupping therapy of 262.84 mg / dl and the average after cupping therapy 239.53 mg / dl. In this study, the results of Test Independent t test t test = 2.64 with p = 0,010 (p 0.05) which means that there are significant differences in cholesterol levels before and after cupping therapy",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/2769/2195",
                        "documentId": "1839902",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"PENGARUH+TERAPI+BEKAM+TERHADAP+PENURUNAN+KADAR+KOLESTEROL+PADA+PASIEN+HYPERCHOLESTEROLEMIA+DI+RUMAH+SEHAT+AL-HIJAMAAH+TAHUN+20142015\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/2769/2195",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v1i2.2750",
                        "year": 2018,
                        "issue": "2",
                        "title": "GLYCOLYTIC 2-DEOXY-D-GLUCOSE PERIOCULAR INHIBITOR SEBAGAI TERAPI ADJUVANT PADA RETINOBLASTOMA",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Demara, Yedhi Azlia",
                            "authorId": "3850546"
                          },
                          {
                            "name": "Laily Annisa Kusumastuti",
                            "authorId": "3850547"
                          },
                          {
                            "name": "Daffa Abhista Wicaksana",
                            "authorId": "3850548"
                          }
                        ],
                        "abstract": "Retinoblastoma is the most common intraocular tumor in children. Retinoblastoma tumors consist of areas with high angiogenic activity and other areas with low oxygen pressure conditions. Tumor cells that survive in this hypoxic region have been shown to be resistant to chemotherapy and radiation, namely standard retinoblastoma therapy which selectively targets rapidly dividing cell populations, so that therapy is needed that can reach up to the hypoxic cells. 2-deoxy-D-glucose (2-DG) has been shown to be effective in reducing hypoxic areas in tumors, reducing tumor buds, and inhibiting angiogenesis. to discuss the glycolytic 2-DG inhibitors as adjuvant therapy in retinoblastoma. The authors searched for medical articles in the PubMed and ResearchGate literature databases with the keywords treatment, 2-deoxy-D-glucose, 2-DG, retinoblastoma, and cancer. The words are combined with OR or AND using Boolean logic. Based on the selection according to the inclusion and exclusion criteria, 4 articles were used as the main reference for writing this review literature. 2-DG will disregulate (inhibit) the process of angiogenesis through upregulation of Estrogen Receptor 1 Nuclear (ESR 1), ubiquitin, jun activation domain binding protein 1 (JAB1), G-protein alpha S, and CAPER in the apical part of the tumor and B3GNT1 upregulation , CEPT1, PABPC1, myotrophin, HAX1 in the postero-lateral part of the tumor. H3, DTX1, RPL12, and bone morphogenic (BMP) histones are also upregulated so that hypoxia can be inhibited. With this mechanism, the tumor burden can be suppressed. Glycolytic 2-DG inhibitors with anti-angiogenesis and anti-hypoxic abilities can be developed as adjuvant therapy for advanced retinoblastoma patients.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/2750/2184",
                        "documentId": "1839903",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"GLYCOLYTIC+2-DEOXY-D-GLUCOSE+PERIOCULAR+INHIBITOR+SEBAGAI+TERAPI+ADJUVANT+PADA+RETINOBLASTOMA\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/2750/2184",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v3i2.4160",
                        "year": 2020,
                        "issue": "2",
                        "title": "ANALISIS POTENSI TERAPI SELULER MENGGUNAKAN ADIPOSE-DERIVED STEM CELLS DAN PLATELET-RICH PLASMA DALAM PENANGANAN PENYAKIT ALZHEIMER",
                        "volume": "3",
                        "authors": [
                          {
                            "name": "Rejoel Mangasa Siagian",
                            "authorId": "3850549"
                          },
                          {
                            "name": "Grady Krisandi",
                            "authorId": "3850550"
                          }
                        ],
                        "abstract": "Alzheimer sebagai penyakit penyebab utama dari kasus demensia pada lansia terus meningkat seiring dengan pertumbuhan jumlah penduduk usia lanjut. Diagnosis, pencegahan, dan secara khusus penanganan penyakit Alzheimer perlu diteliti lebih lanjut. Penelitian terapi seluler dengan menggunakan sel punca adipose-derived stem cell (ADSC) serta penggunaan bioteknologi platelet-rich plasma (PRP) menunjukkan sebuah penanganan dengan metode baru dan potensial oleh karennya dibutuhkan kajian analisis terkait potensi sebagai kandidat terapi Alzheimer. Kajian dilakukan sesuai dengan panduan PRISMA dari sejumlah database yang diakses daring. Dari hasil analisis studi literatur, ADSC dan PRP penurunan konsentrasi peptida amiloid beta (Aβ), pertumbuhan neuron dan sinaptogenesis, aktivasi mikroglia dengan fenotipe antiinflamasi, peningkatan produksi sitokin antiinflamasi, peningkatan stabilitas sinaps dan dendrit, peningkatan viabilitas neuron, peningkatan neurogenesis, dan penurunan neurodegenerasi.dan peningkatan kognitif. Potensi ADSC dan PRP cukup menjanjikan walaupun PRP masih belum banyak yang meneliti potensinya pada penyakit Alzheimer. Studi lebih lanjut mengenai kedua faktor bioaktif tersebut diperlukan untuk meningkatkan potensi serta kemungkinan kombinasi terapi ADSC dan PRP untuk penyakit Alzheimer.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/4160/pdf",
                        "documentId": "1839904",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"ANALISIS+POTENSI+TERAPI+SELULER+MENGGUNAKAN+ADIPOSE-DERIVED+STEM+CELLS+DAN+PLATELET-RICH+PLASMA+DALAM+PENANGANAN+PENYAKIT+ALZHEIMER\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/4160/pdf",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v2i2.3958",
                        "year": 2019,
                        "issue": "2",
                        "title": "HUBUNGAN MOTIVASI INTRINSIK TERHADAP PELAKSANAAN PEMBELAJARAN LANGSUNG DI FAKULTAS KEDOKTERAN HALU OLEO UNIVERSITAS KENDARI",
                        "volume": "2",
                        "authors": [
                          {
                            "name": "Ashaeryanto Ashaeryanto",
                            "authorId": "3850554"
                          },
                          {
                            "name": "Satrio Wicaksono",
                            "authorId": "3850555"
                          },
                          {
                            "name": "Juminten Saimin",
                            "authorId": "2638034"
                          },
                          {
                            "name": "Rezki Fitrianti",
                            "authorId": "3850556"
                          }
                        ],
                        "abstract": "Self-Directed Learning (SDL) is a student-centered learning in which the process and experience of learning are individually regulated and controlled by the student. The implementation of SDL is an interaction of several aspects, including self-motivation, self-control, and self-monitoring skills. Students with strong motivation in the learning process will have more consistency in implementing the SDL. Inner self-motivation will give better impacts than that obtained from the outside. This study aimed to analyze the correlation of intrinsic motivation to SDL implementation in the Faculty of Medicine of Halu Oleo University. The study was quantitative research using a cross-sectional design. Subjects were 91 sophomores of the Faculty of Medicine of Halu Oleo University (UHO). Data were collected using a total sampling method. SDL implementation and intrinsic motivation were measured using Self-Directed Learning Readiness Scale (SDLRS) and Intrinsic Motivation Inventory (IMI) questionnaires, respectively. Data were statistically analyzed using Pearson’s correlation. Second-year of medical students of UHO showed a high intrinsic motivation and SDL implementation. Students with high intrinsic motivation were found to apply high implementation of SDL. Moreover, students with moderate intrinsic motivation also showed high implementation of SDL. There is a significant correlation between intrinsic motivation to SDL implementation among medical students of UHO. Further research is required to investigate other factors that affect the SDL implementation of medical students.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/3958/pdf",
                        "documentId": "1839905",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"HUBUNGAN+MOTIVASI+INTRINSIK+TERHADAP+PELAKSANAAN+PEMBELAJARAN+LANGSUNG+DI+FAKULTAS+KEDOKTERAN+HALU+OLEO+UNIVERSITAS+KENDARI\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/3958/pdf",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
                      },
                      {
                        "doi": "10.26618/aimj.v1i1.2764",
                        "year": 2018,
                        "issue": "1",
                        "title": "OBESITAS TERHADAP TINGKAT INSIDENSI HIPERKOLESTEROLEMIA PADA KARYAWAN DPRD PROVINSI SULAWESI SELATAN DESEMBER 2014",
                        "volume": "1",
                        "authors": [
                          {
                            "name": "Juliani Ibrahim",
                            "authorId": "848509"
                          },
                          {
                            "name": "Andi Ridha Annisa Rahmat",
                            "authorId": "3850559"
                          },
                          {
                            "name": "A.Tenri Padad",
                            "authorId": "5799422"
                          }
                        ],
                        "abstract": "To determine the relationship of obesity to incidence rate of hypercholesterolemia on the employees of DPRD Office of South Sulawesi Province. Methods: Analytic observational study with cross sectional design. Samples were employees of the DPRD Office of South Sulawesi Province December 2014. The data were obtained from the primary data through direct examination to determine body mass index and blood cholesterol levels and through a questionnaire and analyzed using SPSS (Statistical Product and Service Solutions) for windows version 21 with Pearson Chi Square test. Results: The number of samples involved in this study were 100 respondents. Most of the samples were classified as obese as many as 81 people (81.0%) and as many as 5 people (5.0%) were classified as non-obese. In as many as 83 people found respondents (83.0%) were hypercholesterolemia and normal only 17 people (17.0%). Conclusion: In this study, the results of a statistical test with a p-value of 0.000. This means that there is a relationship of obesity to incidence rate of hypercholesterolemia on the employees of the DPRD office of South Sulawesi Province December 2014.",
                        "publisher": "Journal Medical Universitas muhammadiyah Makassar",
                        "sourceUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/view/2764/2192",
                        "documentId": "1839906",
                        "scholarUrl": "http://scholar.google.com/scholar?q=%2Bintitle%3A\"OBESITAS+TERHADAP+TINGKAT+INSIDENSI+HIPERKOLESTEROLEMIA+PADA+KARYAWAN+DPRD+PROVINSI+SULAWESI+SELATAN+DESEMBER+2014\"",
                        "downloadUrl": "https://journal.unismuh.ac.id/index.php/aimj/article/download/2764/2192",
                        "journalTitle": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran"
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                    "description": "Journal of Medicine and Health Indonesia is a peer-reviewed journal of medicine and health. This journal is designed as a forum for disseminating information and knowledge which is published twice a year. It publishes original articles, review articles, and case reports. It comprises biomedical science, clinical medicine, public health science, and medical science education. This journal has been established since 2018 (Print ISSN 2085-4145, ISSN Online 2527-2950) which is managed by the Faculty of Medicine, University of Muhammadiyah Makassar.",
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            "name": "query",
            "in": "query",
            "required": false,
            "description": "Journal name, abbreviation, ISSN or EISSN. Omit to list every journal",
            "schema": {
              "type": "string",
              "example": "kedokteran"
            }
          },
          {
            "name": "page",
            "in": "query",
            "required": false,
            "description": "Page number, 10 journals per page. Default 1",
            "schema": {
              "type": "number",
              "example": "1"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "page": 1,
                    "count": 10,
                    "items": [
                      {
                        "issn": null,
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "2549225X",
                        "title": "Al-Iqra Medical Journal : Jurnal Berkala Ilmiah Kedokteran",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=19466&size=m",
                        "journalId": "19466",
                        "publisher": "Universitas Muhammadiyah Makassar"
                      },
                      {
                        "issn": "24775231",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Dentistry",
                            "areaId": "85"
                          },
                          {
                            "name": "Health Professions",
                            "areaId": "125"
                          },
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          },
                          {
                            "name": "Nursing",
                            "areaId": "177"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "25028715",
                        "title": "AVERROUS: Jurnal Kedokteran dan Kesehatan Malikussaleh",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=18432&size=m",
                        "journalId": "18432",
                        "publisher": "Universitas Malikussaleh"
                      },
                      {
                        "issn": "23015454",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Dentistry",
                            "areaId": "85"
                          }
                        ],
                        "eissn": "26547643",
                        "title": "B-Dent, Jurnal Kedokteran Gigi Universitas Baiturrahmah",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=13753&size=m",
                        "journalId": "13753",
                        "publisher": "Universitas Baiturrahmah"
                      },
                      {
                        "issn": "02151936",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Nursing",
                            "areaId": "177"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "26148412",
                        "title": "Berita Kedokteran Masyarakat",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=26728&size=m",
                        "journalId": "26728",
                        "publisher": "Universitas Gadjah Mada"
                      },
                      {
                        "issn": null,
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          }
                        ],
                        "eissn": "29886791",
                        "title": "Berkala Ilmiah Kedokteran dan Kesehatan Masyarakat",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=41487&size=m",
                        "journalId": "41487",
                        "publisher": "Universitas Islam Indonesia"
                      },
                      {
                        "issn": "24609684",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Biochemistry, Genetics & Molecular Biology",
                            "areaId": "35"
                          },
                          {
                            "name": "Health Professions",
                            "areaId": "125"
                          },
                          {
                            "name": "Immunology & microbiology",
                            "areaId": "130"
                          },
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "24768863",
                        "title": "Berkala Ilmiah Kedokteran Duta Wacana",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=10784&size=m",
                        "journalId": "10784",
                        "publisher": "Universitas Kristen Duta Wacana"
                      },
                      {
                        "issn": "14120550",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Biochemistry, Genetics & Molecular Biology",
                            "areaId": "35"
                          },
                          {
                            "name": "Health Professions",
                            "areaId": "125"
                          },
                          {
                            "name": "Immunology & microbiology",
                            "areaId": "130"
                          },
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "25485660",
                        "title": "Berkala Kedokteran",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=9373&size=m",
                        "journalId": "9373",
                        "publisher": "Universitas Lambung Mangkurat"
                      },
                      {
                        "issn": "28289994",
                        "type": "JOURNAL",
                        "areas": [
                          {
                            "name": "Biochemistry, Genetics & Molecular Biology",
                            "areaId": "35"
                          },
                          {
                            "name": "Health Professions",
                            "areaId": "125"
                          },
                          {
                            "name": "Medicine & Pharmacology",
                            "areaId": "170"
                          },
                          {
                            "name": "Nursing",
                            "areaId": "177"
                          },
                          {
                            "name": "Public Health",
                            "areaId": "185"
                          }
                        ],
                        "eissn": "28289994",
                        "title": "Buletin Kedokteran dan Kesehatan Prima",
                        "coverUrl": "https://garuda.kemdiktisaintek.go.id/imageview/journal?id=26147&size=m",
                        "journalId": "26147",
                        "publisher": "Universitas Prima Indonesia"
                      }
                    ],
                    "limit": 10,
                    "query": "kedokteran",
                    "total": 105,
                    "hasMore": true,
                    "nextPage": 2,
                    "provider": "garuda"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:garuda/publishers": {
      "get": {
        "operationId": "research_garuda_publishers",
        "summary": "Publishers",
        "description": "Garuda (Kemdiktisaintek) — server-rendered HTML; /suggest?term= answers with a full page, not JSON, so the search <form> is the entire API contract. garuda.kemdikbud.go.id and garuda.ristekbrin.go.id are DEAD hostnames: a 0-19ms connect",
        "tags": [
          "Garuda"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/garuda#reference-publishers"
        },
        "parameters": [
          {
            "name": "query",
            "in": "query",
            "required": false,
            "description": "Publisher name. Omit to list every publisher",
            "schema": {
              "type": "string",
              "example": "universitas"
            }
          },
          {
            "name": "page",
            "in": "query",
            "required": false,
            "description": "Page number, 10 publishers per page. Default 1",
            "schema": {
              "type": "number",
              "example": "1"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "page": 1,
                    "count": 10,
                    "items": [
                      {
                        "name": "Universitas Negeri Semarang",
                        "abbrev": "UNNES",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=18&logo=png",
                        "website": "https://unnes.ac.id",
                        "publisherId": "18",
                        "journalCount": 351
                      },
                      {
                        "name": "Universitas Negeri Surabaya",
                        "abbrev": "UNESA",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=118&logo=png",
                        "website": "http://unesa.ac.id",
                        "publisherId": "118",
                        "journalCount": 204
                      },
                      {
                        "name": "Universitas Diponegoro",
                        "abbrev": "UNDIP",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=7&logo=jpg",
                        "website": "http://undip.ac.id",
                        "publisherId": "7",
                        "journalCount": 200
                      },
                      {
                        "name": "Universitas Negeri Padang",
                        "abbrev": "UNP",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=53&logo=jpg",
                        "website": "http://www.unp.ac.id",
                        "publisherId": "53",
                        "journalCount": 191
                      },
                      {
                        "name": "Universitas Negeri Makassar",
                        "abbrev": "UNM",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=112&logo=jpeg",
                        "website": "http://www.unm.ac.id/",
                        "publisherId": "112",
                        "journalCount": 191
                      },
                      {
                        "name": "Universitas Halu Oleo",
                        "abbrev": "UHO",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=351&logo=png",
                        "website": "http://uho.ac.id",
                        "publisherId": "351",
                        "journalCount": 182
                      },
                      {
                        "name": "Universitas Pendidikan Indonesia",
                        "abbrev": "UPI",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=85&logo=jpeg",
                        "website": "http://www.upi.edu/",
                        "publisherId": "85",
                        "journalCount": 174
                      },
                      {
                        "name": "Universitas Brawijaya",
                        "abbrev": "UB",
                        "logoUrl": "https://garuda.kemdiktisaintek.go.id/imageview/publisher/?id=28&logo=jpg",
                        "website": "http://www.ub.ac.id/",
                        "publisherId": "28",
                        "journalCount": 164
                      }
                    ],
                    "limit": 10,
                    "query": "universitas",
                    "total": 823,
                    "hasMore": true,
                    "nextPage": 2,
                    "provider": "garuda"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:google-maps-reviews/search": {
      "get": {
        "operationId": "research_google_maps_reviews_search",
        "summary": "Search Places by Keyword",
        "description": "Cari tempat di Google Maps by kata kunci. Balikin daftar tempat yang cocok (nama, rating, kategori, alamat, ftid/cid/url). Untuk detail + semua ulasan, pakai endpoint reviews dengan query=ftid/cid/url.",
        "tags": [
          "Google Maps Reviews"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/google-maps-reviews#reference-search"
        },
        "parameters": [
          {
            "name": "query",
            "in": "query",
            "required": true,
            "description": "Kata kunci pencarian tempat. Paling akurat kalau sebut jenis + area (mis. 'kopi senayan', 'apotek bandung').",
            "schema": {
              "type": "string",
              "example": "coffee shop menteng jakarta"
            }
          },
          {
            "name": "limit",
            "in": "query",
            "required": false,
            "description": "Maksimum jumlah tempat. Default 20, max 40.",
            "schema": {
              "type": "number",
              "default": 20,
              "example": "20"
            }
          },
          {
            "name": "language",
            "in": "query",
            "required": false,
            "description": "Kode bahasa hasil (hl=). Default en.",
            "schema": {
              "type": "string",
              "default": "en",
              "example": "id"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "hint": "Untuk detail lengkap + semua ulasan, panggil endpoint `reviews` dengan query = ftid/cid/url salah satu tempat di atas.",
                    "count": 10,
                    "query": "coffee shop menteng jakarta",
                    "places": [
                      {
                        "cid": "7935521876300476942",
                        "url": "https://maps.google.com/?cid=7935521876300476942",
                        "ftid": "0x2e69f418b10da37f:0x6e20a31a303b320e",
                        "name": "1/15 Coffee, Menteng",
                        "rating": 4.5,
                        "address": "Jl. Dr. Kusuma Atmaja No.79 10, RT.10/RW.4",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "8767492921603617647",
                        "url": "https://maps.google.com/?cid=8767492921603617647",
                        "ftid": "0x2e69f4151ceb7767:0x79ac645c2aef736f",
                        "name": "Giyanti Coffee Roastery",
                        "rating": 4.6,
                        "address": "",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "5511039473957957695",
                        "url": "https://maps.google.com/?cid=5511039473957957695",
                        "ftid": "0x2e69f5321b8d4f91:0x4c7b2533ec6b703f",
                        "name": "LUC Coffee - Menteng",
                        "rating": 4.9,
                        "address": "Jl. Teuku Cik Ditiro No.3, RT.8/RW.2",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "16405461092859573733",
                        "url": "https://maps.google.com/?cid=16405461092859573733",
                        "ftid": "0x2e69f5e230652957:0xe3abe7f1b062f5e5",
                        "name": "Ombé Kofie Menteng",
                        "rating": 4.5,
                        "address": "",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "2763188331139820129",
                        "url": "https://maps.google.com/?cid=2763188331139820129",
                        "ftid": "0x2e69f414485a7db5:0x2658d125ad17ea61",
                        "name": "Anomali Coffee Menteng",
                        "rating": 4.5,
                        "address": "Jl. Teuku Cik Ditiro No.52, RT.10/RW.5",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "15650491436840511292",
                        "url": "https://maps.google.com/?cid=15650491436840511292",
                        "ftid": "0x2e69f33d3ff98109:0xd931b70abd2be73c",
                        "name": "Nwansa Coffee, Menteng",
                        "rating": 4.8,
                        "address": "toko sebelum lampu merah, Jl. Surabaya No. 2, Kec. Menteng. Kel. Menteng, Jakarta Pusat (2, RT.16/RW.5",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "14721771199065890163",
                        "url": "https://maps.google.com/?cid=14721771199065890163",
                        "ftid": "0x2e69f57291b199d5:0xcc4e3ce800e61d73",
                        "name": "Agreya Coffee Menteng - Cafe & Coffee Shop Jakarta Pusat: WFC, Meeting Room, dan Smoking Indoor",
                        "rating": 4.9,
                        "address": "masjid Sunda Kelapa, Jl. Taman Sunda Kelapa, RT.6/RW.4",
                        "category": "Coffee shop",
                        "reviewCount": null
                      },
                      {
                        "cid": "1761403448671480868",
                        "url": "https://maps.google.com/?cid=1761403448671480868",
                        "ftid": "0x2e69f51c1a2dfbeb:0x1871c31ab0362c24",
                        "name": "Kurasu Menteng",
                        "rating": 4.7,
                        "address": "Jl. Latuharhary No.9, RT.11/RW.7",
                        "category": "Coffee shop",
                        "reviewCount": null
                      }
                    ]
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:google-maps-reviews/reviews": {
      "get": {
        "operationId": "research_google_maps_reviews_reviews",
        "summary": "Reviews by Keyword",
        "description": "Cari tempat via kata kunci/nama (atau URL Maps/CID), lalu ambil ulasan publiknya: penulis, rating, waktu, teks, foto. Paginasi + sortir.",
        "tags": [
          "Google Maps Reviews"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/google-maps-reviews#reference-reviews"
        },
        "parameters": [
          {
            "name": "place",
            "in": "query",
            "required": true,
            "description": "ID tempat Google Maps: CID (angka), ftid (0x..:0x..), atau URL Google Maps tempat. Ambil dari endpoint `search` (field cid/ftid/url).",
            "schema": {
              "type": "string",
              "example": "8767492921603617647"
            }
          },
          {
            "name": "pages",
            "in": "query",
            "required": false,
            "description": "Jumlah halaman ulasan (1 halaman = ~10 ulasan). Default 2, max 8.",
            "schema": {
              "type": "number",
              "default": 2,
              "example": "2"
            }
          },
          {
            "name": "sort",
            "in": "query",
            "required": false,
            "description": "Urutan ulasan: relevant (default) | newest | highest | lowest.",
            "schema": {
              "type": "string",
              "enum": [
                "relevant",
                "newest",
                "highest",
                "lowest"
              ],
              "default": "relevant",
              "example": "newest"
            }
          },
          {
            "name": "language",
            "in": "query",
            "required": false,
            "description": "Kode bahasa hasil (hl=). Default en. Contoh: id, en.",
            "schema": {
              "type": "string",
              "default": "en",
              "example": "en"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "sort": "newest",
                    "count": 20,
                    "place": {
                      "cid": "8767492921603617647",
                      "url": "https://maps.google.com/?cid=8767492921603617647",
                      "ftid": "0x0:0x79ac645c2aef736f",
                      "name": "Giyanti Coffee Roastery",
                      "rating": 4.6,
                      "address": "Surabaya St No.20, RT.15/RW.5, Menteng, Central Jakarta City, Jakarta 10310, Indonesia",
                      "category": "Cafe",
                      "plusCode": "RR2Q+CQ Menteng, Central Jakarta City, Jakarta, Indonesia",
                      "coordinates": {
                        "lat": -6.1988778,
                        "lng": 106.8394721
                      },
                      "totalReviews": 4278
                    },
                    "reviews": [
                      {
                        "id": "Ci9DQUlRQUNvZENodHljRjlvT2pSQ2NpMUdUMmc0ZVU5TE5XbHZhRXBKZWxSSFRFRRAB",
                        "text": "Giyanti Coffee Menteng is a true gem for coffee enthusiasts. The café offers a warm, inviting atmosphere that makes you feel at home. Their Picollo stands out, expertly crafted, smooth, and full of flavor. It’s the kind of coffee that lingers in memory long after the last sip. Highly recommended for anyone seeking quality coffee in Menteng.",
                        "author": {
                          "id": "117944858386343515815",
                          "name": "Biav",
                          "avatar": "https://lh3.googleusercontent.com/a/ACg8ocJO-9ghde51eXlk-DDdt7sW4MYygf8DYG5XMqXfJqx5p8ZLIA=s120-c-rp-mo-ba12-br100",
                          "profileUrl": "https://www.google.com/maps/contrib/117944858386343515815/reviews?hl=en",
                          "reviewCount": 15,
                          "isLocalGuide": true
                        },
                        "photos": [],
                        "rating": 5,
                        "language": "en",
                        "timestamp": 1781264113505,
                        "relativeTime": "15 hours ago",
                        "timestampIso": "2026-06-12T11:35:13.505Z",
                        "ownerResponse": null
                      },
                      {
                        "id": "Ci9DQUlRQUNvZENodHljRjlvT25SWE0ySTVjRzQ0TFV4c2VVbEZPVWhLZDNjMlRsRRAB",
                        "text": "Giyanti Coffee Roastery is still that girl.\n\nTucked away in the middle of Jakarta, this place has such a warm and homey vibe that makes you want to stay longer than planned. The moment you walk in, the aroma of freshly roasted coffee hits different.\n\nOrdered a cup of black coffee and it was exactly what you’d expect from a roastery that’s been respected for years. clean, flavorful, and beautifully balanced. No unnecessary gimmicks, just great coffee and solid execution.\n\nThe space feels intimate and charming, with that old Jakarta character that makes it stand out from newer cafés. Perfect for slow mornings, catching up with friends, or simply enjoying a proper coffee break.\n\nHonestly, Giyanti is one of those places that reminds you why specialty coffee became a thing in the first place. Great beans, great atmosphere, and timeless vibes. Definitely worth coming back to.",
                        "author": {
                          "id": "108087582026663315656",
                          "name": "Garry Akbar Prakaza",
                          "avatar": "https://lh3.googleusercontent.com/a-/ALV-UjUuQqA6cdJ0OuCJWzLCC0CG-fIEu2mb-NaIzyzjYSFpDQL6TSz3aQ=s120-c-rp-mo-ba12-br100",
                          "profileUrl": "https://www.google.com/maps/contrib/108087582026663315656/reviews?hl=en",
                          "reviewCount": 263,
                          "isLocalGuide": true
                        },
                        "photos": [
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                        "text": "Tidak sebaik di fotonya. Ini adalah pemanfaatan sisi samping property untuk dijadikan cafe, jadi entrynya ada di samping kiri rumah.\nParkir terbatas dan dipungut 10k\nKopi so so, cenderung over roasted (mungkin mereka pakai dark roast?).",
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                        "text": "One of my favorite coffee shop 🤩",
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                          "name": "Danica Prima",
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                        "id": "Ci9DQUlRQUNvZENodHljRjlvT2tOb1FsZDZTbXRyUlV0WlN6aGhjRFJMVTFoSGVtYxAB",
                        "text": "Another lovely coffee shop that we should visit in town! Kopi camelnya enak ga bikin deg2an n mual, soalnya aku suka zonk kadang kalo minum kopi but this very good\n\nTempatnya fotogenic banget, estetik makanya kita foto2 terus nih, kamar mandi juga bersih oke banget, pelayanan ramah minta tolong foto ma mbaknya gercep, kokonya ramah, talk like we know each other before..kurangnya cuma gak ada tempat shalat doang sih\n\nSukses terus ya, til we meet again Giyanti",
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                          "year": 2026,
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                        "content": "1. N Engl J Med. 2020 Dec 31;383(27):2603-2615. doi: 10.1056/NEJMoa2034577. Epub \n2020 Dec 10.\n\nSafety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.\n\nPolack FP(1), Thomas SJ(1), Kitchin N(1), Absalon J(1), Gurtman A(1), Lockhart \nS(1), Perez JL(1), Pérez Marc G(1), Moreira ED(1), Zerbini C(1), Bailey R(1), \nSwanson KA(1), Roychoudhury S(1), Koury K(1), Li P(1), Kalina WV(1), Cooper \nD(1), Frenck RW Jr(1), Hammitt LL(1), Türeci Ö(1), Nell H(1), Schaefer A(1), \nÜnal S(1), Tresnan DB(1), Mather S(1), Dormitzer PR(1), Şahin U(1), Jansen \nKU(1), Gruber WC(1); C4591001 Clinical Trial Group.\n\nCollaborators: Aberg J, Addo M, Akhan S, Albertson T, Al-Ibrahim M, Altın S, \nAnderson C, Andrews C, Arora S, Balik I, Barnett E, Bauer G, Baumann-Noss S, \nBerhe M, Bradley P, Brandon D, Brune D, Burgher A, Butcher B, Butuk D, Cannon K, \nCardona J, Cavelli R, Chalhoub F, Christensen S, Christensen T, Chu L, Cox S, \nCrook G, Davis M, Davit R, Denham D, Dever M, Donskey C, Doust M, Dunn M, Earl \nJ, Eder F, Eich A, Ensz D, Essink B, Falcone R, Falsey A, Farrington C, Finberg \nR, Finn D, Fitz-Patrick D, Fortmann S, Fouche L, Fragoso V, Frenck R, Fried D, \nFuller G, Fussell S, Garcia-Diaz J, Gentry A, Glover R, Greenbaum C, Grubb S, \nHammitt L, Harper C, Harper W, Hartman A, Heller R, Hendrix E, Herrington D, \nJennings T, Karabay O, Kaster S, Katzman S, Kingsley J, Klein N, Klein T, Koch \nM, Köksal I, Koren M, Kutner M, Lee M, Leibowitz M, Levin M, Libster R, \nLillestol M, Lucasti C, Luttermann M, Manning MBE, Martin M, Matherne P, \nMcMurray J, Mert A, Middleton R, Mitha E, Morawski E, Moreira E, Mulligan M, \nMurray A, Mussaji M, Musungaie D, Nell H, Odekirk L, Ogbuagu O, Paolino K, Patel \nS, Peterson J, Pickrell P, Polack F, Poretz D, Raad G, Randall W, Rankin B, \nReynolds S, Riesenberg R, Rodriguez H, Rosen J, Rubino J, Rupp R, Saiger S, \nSalata R, Saleh J, Schaefer A, Schear M, Schultz A, Schwartz H, Segall N, Seger \nW, Senders S, Sharp S, Shoffner S, Simsek Yavuz S, Sligh T, Smith W, Stacey H, \nStephens M, Studdard H, Tabak F, Talaat K, Thomas S, Towner W, Tran V, Ünal S, \nUsdan L, Vanchiere J, Varano S, Wadsworth ETL, Walsh W, Walter E, Wappner D, \nWhiles R, Williams H, Wilson J, Winkle P, Winokur P, Wolf T, Yozviak J, Zerbini \nC.\n\nAuthor information:\n(1)From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), \nBuenos Aires; State University of New York, Upstate Medical University, Syracuse \n(S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., \nK.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine \nResearch and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); \nVaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety \nSurveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação \nObras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro \nPaulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global \nProduct Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, \nCincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore \n(L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen \n(A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape \nTown, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and \nWorldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT \n(D.B.T.).\n\nComment in\n    N Engl J Med. 2020 Dec 31;383(27):2677-2678. doi: 10.1056/NEJMe2034717.\n    Nature. 2020 Dec;588(7838):377-378. doi: 10.1038/d41586-020-03542-4.\n    Semergen. 2021 Jan-Feb;47(1):1-3. doi: 10.1016/j.semerg.2020.12.005.\n    Panminerva Med. 2022 Mar;64(1):131-132. doi: 10.23736/S0031-0808.21.04286-5.\n    Ann Intern Med. 2021 Feb;174(2):JC15. doi: 10.7326/ACPJ202102160-015.\n    MMW Fortschr Med. 2021 Feb;163(2):24-25. doi: 10.1007/s15006-021-9577-4.\n    N Engl J Med. 2021 Apr 22;384(16):1576-1577. doi: 10.1056/NEJMc2036242.\n    N Engl J Med. 2021 Apr 22;384(16):1577. doi: 10.1056/NEJMc2036242.\n    N Engl J Med. 2021 Apr 22;384(16):1577-1578. doi: 10.1056/NEJMc2036242.\n    Virol Sin. 2021 Oct;36(5):1097-1103. doi: 10.1007/s12250-021-00408-5.\n    N Engl J Med. 2022 Mar 24;386(12):1176-1179. doi: 10.1056/NEJMe2202547.\n\nBACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) \ninfection and the resulting coronavirus disease 2019 (Covid-19) have afflicted \ntens of millions of people in a worldwide pandemic. Safe and effective vaccines \nare needed urgently.\nMETHODS: In an ongoing multinational, placebo-controlled, observer-blinded, \npivotal efficacy trial, we randomly assigned persons 16 years of age or older in \na 1:1 ratio to receive two doses, 21 days apart, of either placebo or the \nBNT162b2 vaccine candidate (30 μg per dose). BNT162b2 is a lipid \nnanoparticle-formulated, nucleoside-modified RNA vaccine that encodes a \nprefusion stabilized, membrane-anchored SARS-CoV-2 full-length spike protein. \nThe primary end points were efficacy of the vaccine against laboratory-confirmed \nCovid-19 and safety.\nRESULTS: A total of 43,548 participants underwent randomization, of whom 43,448 \nreceived injections: 21,720 with BNT162b2 and 21,728 with placebo. There were 8 \ncases of Covid-19 with onset at least 7 days after the second dose among \nparticipants assigned to receive BNT162b2 and 162 cases among those assigned to \nplacebo; BNT162b2 was 95% effective in preventing Covid-19 (95% credible \ninterval, 90.3 to 97.6). Similar vaccine efficacy (generally 90 to 100%) was \nobserved across subgroups defined by age, sex, race, ethnicity, baseline \nbody-mass index, and the presence of coexisting conditions. Among 10 cases of \nsevere Covid-19 with onset after the first dose, 9 occurred in placebo \nrecipients and 1 in a BNT162b2 recipient. The safety profile of BNT162b2 was \ncharacterized by short-term, mild-to-moderate pain at the injection site, \nfatigue, and headache. The incidence of serious adverse events was low and was \nsimilar in the vaccine and placebo groups.\nCONCLUSIONS: A two-dose regimen of BNT162b2 conferred 95% protection against \nCovid-19 in persons 16 years of age or older. Safety over a median of 2 months \nwas similar to that of other viral vaccines. (Funded by BioNTech and Pfizer; \nClinicalTrials.gov number, NCT04368728.).\n\nCopyright © 2020 Massachusetts Medical Society.\n\nDOI: 10.1056/NEJMoa2034577\nPMCID: PMC7745181\nPMID: 33301246 [Indexed for MEDLINE]"
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                        "pmid": "32109013",
                        "content": "2. N Engl J Med. 2020 Apr 30;382(18):1708-1720. doi: 10.1056/NEJMoa2002032. Epub \n2020 Feb 28.\n\nClinical Characteristics of Coronavirus Disease 2019 in China.\n\nGuan WJ(1), Ni ZY(1), Hu Y(1), Liang WH(1), Ou CQ(1), He JX(1), Liu L(1), Shan \nH(1), Lei CL(1), Hui DSC(1), Du B(1), Li LJ(1), Zeng G(1), Yuen KY(1), Chen \nRC(1), Tang CL(1), Wang T(1), Chen PY(1), Xiang J(1), Li SY(1), Wang JL(1), \nLiang ZJ(1), Peng YX(1), Wei L(1), Liu Y(1), Hu YH(1), Peng P(1), Wang JM(1), \nLiu JY(1), Chen Z(1), Li G(1), Zheng ZJ(1), Qiu SQ(1), Luo J(1), Ye CJ(1), Zhu \nSY(1), Zhong NS(1); China Medical Treatment Expert Group for Covid-19.\n\nCollaborators: Zhong NS, Li LJ, Zeng G, Gao GF, Yuen KY.\n\nAuthor information:\n(1)From the State Key Laboratory of Respiratory Disease, National Clinical \nResearch Center for Respiratory Disease, Guangzhou Institute of Respiratory \nHealth, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., \nJ.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments \nof Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency \nMedicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and \nGuangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the \nState Key Laboratory of Organ Failure Research, Department of Biostatistics, \nGuangdong Provincial Key Laboratory of Tropical Disease Research, School of \nPublic Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan \nJinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, \nHuazhong University of Science and Technology (Yu Hu), the Central Hospital of \nWuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and \nWestern Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital \nAffiliated to Wuhan University of Science and Technology (Jian-ming Wang), and \nthe People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's \nHospital and the Second Affiliated Hospital of Southern University of Science \nand Technology, National Clinical Research Center for Infectious Diseases (L. \nLiu), and the Department of Clinical Microbiology and Infection Control, \nUniversity of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth \nAffiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of \nMedicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), \nand the Department of Microbiology and the Carol Yu Center for Infection, Li Ka \nShing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong \nKong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical \nCollege and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center \nfor Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for \nDiagnosis and Treatment of Infectious Diseases, National Clinical Research \nCenter for Infectious Diseases, First Affiliated Hospital, College of Medicine, \nZhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical \nCenter, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, \nAffiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the \nFirst Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of \nHainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), \nWenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of \nYichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of \nMedicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - \nall in China.\n\nComment in\n    N Engl J Med. 2020 May 7;382(19):1859. doi: 10.1056/NEJMc2005203.\n    N Engl J Med. 2020 May 7;382(19):1860. doi: 10.1056/NEJMc2005203.\n    N Engl J Med. 2020 May 7;382(19):1860. doi: 10.1056/NEJMc2005203.\n    N Engl J Med. 2020 May 7;382(19):1860-1861. doi: 10.1056/NEJMc2005203.\n    Travel Med Infect Dis. 2020 May - Jun;35:101620. doi: \n10.1016/j.tmaid.2020.101620.\n    Diabetes Res Clin Pract. 2020 Apr;162:108132. doi: \n10.1016/j.diabres.2020.108132.\n    Int J Cardiol. 2020 Jul 1;310:167-168. doi: 10.1016/j.ijcard.2020.03.074.\n    Singapore Med J. 2020 Sep;61(9):460-462. doi: 10.11622/smedj.2020051.\n    Br J Haematol. 2020 May;189(4):640-642. doi: 10.1111/bjh.16699.\n    Spinal Cord. 2020 Jun;58(6):724-725. doi: 10.1038/s41393-020-0472-0.\n    Urology. 2020 Aug;142:42. doi: 10.1016/j.urology.2020.04.069.\n    Eur Respir J. 2020 Aug 13;56(2):2001692. doi: 10.1183/13993003.01692-2020.\n    Eur Respir J. 2020 Jul 16;56(1):2001234. doi: 10.1183/13993003.01234-2020.\n    Med J Malaysia. 2020 May;75(3):309-310.\n    Am J Physiol Endocrinol Metab. 2020 Jul 1;319(1):E197-E202. doi: \n10.1152/ajpendo.00255.2020.\n    Rehabilitacion (Madr). 2020 Oct - Dec;54(4):228-230. doi: \n10.1016/j.rh.2020.06.002.\n    Hepatology. 2020 Nov;72(5):1509-1513. doi: 10.1002/hep.31522.\n    S Afr Med J. 2020 Jun 02;110(7):572-573. doi: \n10.7196/SAMJ.2020.v110i7.14917.\n    Signal Transduct Target Ther. 2020 Oct 3;5(1):217. doi: \n10.1038/s41392-020-00333-1.\n    Mayo Clin Proc. 2020 Oct;95(10):2062-2064. doi: \n10.1016/j.mayocp.2020.08.012.\n    Pulmonology. 2021 Mar-Apr;27(2):91-93. doi: 10.1016/j.pulmoe.2020.11.002.\n    Perm J. 2020 Dec;25:1. doi: 10.7812/TPP/20.140.\n\nBACKGROUND: Since December 2019, when coronavirus disease 2019 (Covid-19) \nemerged in Wuhan city and rapidly spread throughout China, data have been needed \non the clinical characteristics of the affected patients.\nMETHODS: We extracted data regarding 1099 patients with laboratory-confirmed \nCovid-19 from 552 hospitals in 30 provinces, autonomous regions, and \nmunicipalities in mainland China through January 29, 2020. The primary composite \nend point was admission to an intensive care unit (ICU), the use of mechanical \nventilation, or death.\nRESULTS: The median age of the patients was 47 years; 41.9% of the patients were \nfemale. The primary composite end point occurred in 67 patients (6.1%), \nincluding 5.0% who were admitted to the ICU, 2.3% who underwent invasive \nmechanical ventilation, and 1.4% who died. Only 1.9% of the patients had a \nhistory of direct contact with wildlife. Among nonresidents of Wuhan, 72.3% had \ncontact with residents of Wuhan, including 31.3% who had visited the city. The \nmost common symptoms were fever (43.8% on admission and 88.7% during \nhospitalization) and cough (67.8%). Diarrhea was uncommon (3.8%). The median \nincubation period was 4 days (interquartile range, 2 to 7). On admission, \nground-glass opacity was the most common radiologic finding on chest computed \ntomography (CT) (56.4%). No radiographic or CT abnormality was found in 157 of \n877 patients (17.9%) with nonsevere disease and in 5 of 173 patients (2.9%) with \nsevere disease. Lymphocytopenia was present in 83.2% of the patients on \nadmission.\nCONCLUSIONS: During the first 2 months of the current outbreak, Covid-19 spread \nrapidly throughout China and caused varying degrees of illness. Patients often \npresented without fever, and many did not have abnormal radiologic findings. \n(Funded by the National Health Commission of China and others.).\n\nCopyright © 2020 Massachusetts Medical Society.\n\nDOI: 10.1056/NEJMoa2002032\nPMCID: PMC7092819\nPMID: 32109013 [Indexed for MEDLINE]"
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                        "pmid": "32109013",
                        "year": 2020,
                        "pmcid": "PMC7092819",
                        "authors": "Guan WJ, Ni ZY, Hu Y, Liang WH, Ou CQ, He JX, Liu L, Shan H, Lei CL, Hui DSC, Du B, Li LJ, Zeng G, Yuen KY, Chen RC, Tang CL, Wang T, Chen PY, Xiang J, Li SY, Wang JL, Liang ZJ, Peng YX, Wei L, Liu Y, Hu YH, Peng P, Wang JM, Liu JY, Chen Z, Li G, Zheng ZJ, Qiu SQ, Luo J, Ye CJ, Zhu SY, Zhong NS",
                        "journal": "N Engl J Med. 2020 Apr 30;382(18):1708-1720. doi: 10.1056/NEJMoa2002032. Epub ",
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                          {
                            "text": "Clinical Characteristics of Coronavirus Disease 2019 in China.",
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                                "name": "COVID-19",
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                            "text": "BACKGROUND: Since December 2019, when coronavirus disease 2019 (Covid-19) emerged in Wuhan city and rapidly spread throughout China, data have been needed on the clinical characteristics of the affected patients. METHODS: We extracted data regarding 1099 patients with laboratory-confirmed Covid-19 from 552 hospitals in 30 provinces, autonomous regions, and municipalities in mainland China through January 29, 2020. The primary composite end point was admission to an intensive care unit (ICU), the use of mechanical ventilation, or death. RESULTS: The median age of the patients was 47 years; 41.9% of the patients were female. The primary composite end point occurred in 67 patients (6.1%), including 5.0% who were admitted to the ICU, 2.3% who underwent invasive mechanical ventilation, and 1.4% who died. Only 1.9% of the patients had a history of direct contact with wildlife. Among nonresidents of Wuhan, 72.3% had contact with residents of Wuhan, including 31.3% who had visited the city. The most common symptoms were fever (43.8% on admission and 88.7% during hospitalization) and cough (67.8%). Diarrhea was uncommon (3.8%). The median incubation period was 4 days (interquartile range, 2 to 7). On admission, ground-glass opacity was the most common radiologic finding on chest computed tomography (CT) (56.4%). No radiographic or CT abnormality was found in 157 of 877 patients (17.9%) with nonsevere disease and in 5 of 173 patients (2.9%) with severe disease. Lymphocytopenia was present in 83.2% of the patients on admission. CONCLUSIONS: During the first 2 months of the current outbreak, Covid-19 spread rapidly throughout China and caused varying degrees of illness. Patients often presented without fever, and many did not have abnormal radiologic findings. (Funded by the National Health Commission of China and others.).",
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                        "pmid": "33301246",
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                        "pmcid": "PMC7745181",
                        "authors": "Polack FP, Thomas SJ, Kitchin N, Absalon J, Gurtman A, Lockhart S, Perez JL, Perez Marc G, Moreira ED, Zerbini C, Bailey R, Swanson KA, Roychoudhury S, Koury K, Li P, Kalina WV, Cooper D, Frenck RW Jr, Hammitt LL, Tureci O, Nell H, Schaefer A, Unal S, Tresnan DB, Mather S, Dormitzer PR, Sahin U, Jansen KU, Gruber WC",
                        "journal": "N Engl J Med. 2020 Dec 31;383(27):2603-2615. doi: 10.1056/NEJMoa2034577. Epub ",
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                          {
                            "text": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.",
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                                "identifier": "MESH:D000086382",
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                          {
                            "text": "BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the resulting coronavirus disease 2019 (Covid-19) have afflicted tens of millions of people in a worldwide pandemic. Safe and effective vaccines are needed urgently. METHODS: In an ongoing multinational, placebo-controlled, observer-blinded, pivotal efficacy trial, we randomly assigned persons 16 years of age or older in a 1:1 ratio to receive two doses, 21 days apart, of either placebo or the BNT162b2 vaccine candidate (30 mug per dose). BNT162b2 is a lipid nanoparticle-formulated, nucleoside-modified RNA vaccine that encodes a prefusion stabilized, membrane-anchored SARS-CoV-2 full-length spike protein. The primary end points were efficacy of the vaccine against laboratory-confirmed Covid-19 and safety. RESULTS: A total of 43,548 participants underwent randomization, of whom 43,448 received injections: 21,720 with BNT162b2 and 21,728 with placebo. There were 8 cases of Covid-19 with onset at least 7 days after the second dose among participants assigned to receive BNT162b2 and 162 cases among those assigned to placebo; BNT162b2 was 95% effective in preventing Covid-19 (95% credible interval, 90.3 to 97.6). Similar vaccine efficacy (generally 90 to 100%) was observed across subgroups defined by age, sex, race, ethnicity, baseline body-mass index, and the presence of coexisting conditions. Among 10 cases of severe Covid-19 with onset after the first dose, 9 occurred in placebo recipients and 1 in a BNT162b2 recipient. The safety profile of BNT162b2 was characterized by short-term, mild-to-moderate pain at the injection site, fatigue, and headache. The incidence of serious adverse events was low and was similar in the vaccine and placebo groups. CONCLUSIONS: A two-dose regimen of BNT162b2 conferred 95% protection against Covid-19 in persons 16 years of age or older. Safety over a median of 2 months was similar to that of other viral vaccines. (Funded by BioNTech and Pfizer; ClinicalTrials.gov number, NCT04368728.).",
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            "schema": {
              "type": "string",
              "example": "88"
            }
          },
          {
            "name": "firstPage",
            "in": "query",
            "required": false,
            "description": "First page of the article",
            "schema": {
              "type": "string",
              "example": "3248"
            }
          },
          {
            "name": "author",
            "in": "query",
            "required": false,
            "description": "First author, surname and initials",
            "schema": {
              "type": "string",
              "example": "mann bj"
            }
          },
          {
            "name": "key",
            "in": "query",
            "required": false,
            "description": "Your own label for this citation, echoed back on the match",
            "schema": {
              "type": "string",
              "example": "ref1"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "db": "pubmed",
                    "key": "ref1",
                    "pmid": "2014248",
                    "year": 1991,
                    "author": "mann bj",
                    "volume": "88",
                    "journal": "proc natl acad sci u s a",
                    "provider": "pubmed",
                    "firstPage": "3248"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/citation-metrics": {
      "get": {
        "operationId": "research_pubmed_citation_metrics",
        "summary": "Citation Metrics",
        "description": "iCite bibliometrics. It inlines cited_by[] and references[] — 841 KB for two PMIDs — so those arrays are opt-in rather than default.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-citation-metrics"
        },
        "parameters": [
          {
            "name": "pmids",
            "in": "query",
            "required": true,
            "description": "Comma-separated PMIDs, max 200 per call",
            "schema": {
              "type": "string",
              "example": "33301246,32109013"
            }
          },
          {
            "name": "includeCitationLists",
            "in": "query",
            "required": false,
            "description": "Include the full citedBy, citedByClinical and references PMID lists. They are large — two PMIDs measured 841 KB. Default false",
            "schema": {
              "type": "string",
              "enum": [
                "true",
                "false"
              ],
              "example": "false"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "count": 2,
                    "items": [
                      {
                        "doi": "10.1056/NEJMoa2002032",
                        "pmid": "32109013",
                        "year": 2020,
                        "human": 0.7777777777777778,
                        "title": "Clinical Characteristics of Coronavirus Disease 2019 in China.",
                        "animal": 0,
                        "xCoord": -0.19245008972987523,
                        "yCoord": 0.6666666666666667,
                        "authors": [
                          {
                            "name": "Guan, Wei-Jie",
                            "lastName": "Guan",
                            "firstName": "Wei-Jie"
                          },
                          {
                            "name": "Ni, Zheng-Yi",
                            "lastName": "Ni",
                            "firstName": "Zheng-Yi"
                          },
                          {
                            "name": "Hu, Yu",
                            "lastName": "Hu",
                            "firstName": "Yu"
                          },
                          {
                            "name": "Liang, Wen-Hua",
                            "lastName": "Liang",
                            "firstName": "Wen-Hua"
                          },
                          {
                            "name": "Ou, Chun-Quan",
                            "lastName": "Ou",
                            "firstName": "Chun-Quan"
                          },
                          {
                            "name": "He, Jian-Xing",
                            "lastName": "He",
                            "firstName": "Jian-Xing"
                          },
                          {
                            "name": "Liu, Lei",
                            "lastName": "Liu",
                            "firstName": "Lei"
                          },
                          {
                            "name": "Shan, Hong",
                            "lastName": "Shan",
                            "firstName": "Hong"
                          }
                        ],
                        "journal": "N Engl J Med",
                        "isClinical": false,
                        "provisional": false,
                        "citationCount": 18784,
                        "nihPercentile": 100,
                        "citationsPerYear": 3130.6666666666665,
                        "fieldCitationRate": 5.71715931843237,
                        "isResearchArticle": true,
                        "molecularCellular": 0.2222222222222222,
                        "relativeCitationRatio": 1178.3415335154866,
                        "citedByClinicalArticle": true,
                        "expectedCitationsPerYear": 2.656841482389724,
                        "approximatePotentialToTranslate": 0.95
                      },
                      {
                        "doi": "10.1056/NEJMoa2034577",
                        "pmid": "33301246",
                        "year": 2020,
                        "human": 0.8571428571428571,
                        "title": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.",
                        "animal": 0,
                        "xCoord": -0.12371791482634836,
                        "yCoord": 0.7857142857142857,
                        "authors": [
                          {
                            "name": "Polack, Fernando P",
                            "lastName": "Polack",
                            "firstName": "Fernando P"
                          },
                          {
                            "name": "Thomas, Stephen J",
                            "lastName": "Thomas",
                            "firstName": "Stephen J"
                          },
                          {
                            "name": "Kitchin, Nicholas",
                            "lastName": "Kitchin",
                            "firstName": "Nicholas"
                          },
                          {
                            "name": "Absalon, Judith",
                            "lastName": "Absalon",
                            "firstName": "Judith"
                          },
                          {
                            "name": "Gurtman, Alejandra",
                            "lastName": "Gurtman",
                            "firstName": "Alejandra"
                          },
                          {
                            "name": "Lockhart, Stephen",
                            "lastName": "Lockhart",
                            "firstName": "Stephen"
                          },
                          {
                            "name": "Perez, John L",
                            "lastName": "Perez",
                            "firstName": "John L"
                          },
                          {
                            "name": "Marc, Gonzalo Pérez",
                            "lastName": "Marc",
                            "firstName": "Gonzalo Pérez"
                          }
                        ],
                        "journal": "N Engl J Med",
                        "isClinical": true,
                        "provisional": false,
                        "citationCount": 11647,
                        "nihPercentile": 100,
                        "citationsPerYear": 1941.1666666666667,
                        "fieldCitationRate": 7.0924802409233445,
                        "isResearchArticle": true,
                        "molecularCellular": 0.14285714285714285,
                        "relativeCitationRatio": 606.9075911393454,
                        "citedByClinicalArticle": true,
                        "expectedCitationsPerYear": 3.198455077852168,
                        "approximatePotentialToTranslate": 0.95
                      }
                    ],
                    "provider": "pubmed",
                    "includeCitationLists": false
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/database-info": {
      "get": {
        "operationId": "research_pubmed_database_info",
        "summary": "Database Info",
        "description": "einfo per-database record: searchable fields, link names, build and record count.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-database-info"
        },
        "parameters": [
          {
            "name": "db",
            "in": "query",
            "required": true,
            "description": "Entrez database to describe",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "db": "pubmed",
                    "build": "Build-2026.08.29.12.19",
                    "links": [
                      {
                        "dbTo": "assembly",
                        "menu": "Assembly",
                        "name": "pubmed_assembly",
                        "description": "Assembly"
                      },
                      {
                        "dbTo": "bioproject",
                        "menu": "Project Links",
                        "name": "pubmed_bioproject",
                        "description": "Related Projects"
                      },
                      {
                        "dbTo": "biosample",
                        "menu": "BioSample Links",
                        "name": "pubmed_biosample",
                        "description": "BioSample links"
                      },
                      {
                        "dbTo": "books",
                        "menu": "Cited in Books",
                        "name": "pubmed_books_refs",
                        "description": "PubMed links associated with Books"
                      },
                      {
                        "dbTo": "cdd",
                        "menu": "Conserved Domain Links",
                        "name": "pubmed_cdd",
                        "description": "Link to related CDD entry"
                      },
                      {
                        "dbTo": "clinvar",
                        "menu": "ClinVar",
                        "name": "pubmed_clinvar",
                        "description": "Clinical variations associated with publication"
                      },
                      {
                        "dbTo": "dbvar",
                        "menu": "dbVar",
                        "name": "pubmed_dbvar",
                        "description": "Link from PubMed to dbVar"
                      },
                      {
                        "dbTo": "gap",
                        "menu": "dbGaP Links",
                        "name": "pubmed_gap",
                        "description": "Related dbGaP record"
                      }
                    ],
                    "fields": [
                      {
                        "name": "ALL",
                        "isDate": false,
                        "fullName": "All Fields",
                        "isHidden": false,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "All terms from all searchable fields",
                        "isNumerical": false,
                        "singleToken": false
                      },
                      {
                        "name": "UID",
                        "isDate": false,
                        "fullName": "UID",
                        "isHidden": true,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "Unique number assigned to publication",
                        "isNumerical": true,
                        "singleToken": true
                      },
                      {
                        "name": "FILT",
                        "isDate": false,
                        "fullName": "Filter",
                        "isHidden": false,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "Limits the records",
                        "isNumerical": false,
                        "singleToken": true
                      },
                      {
                        "name": "TITL",
                        "isDate": false,
                        "fullName": "Title",
                        "isHidden": false,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "Words in title of publication",
                        "isNumerical": false,
                        "singleToken": false
                      },
                      {
                        "name": "MESH",
                        "isDate": false,
                        "fullName": "MeSH Terms",
                        "isHidden": false,
                        "hierarchy": true,
                        "termCount": null,
                        "description": "Medical Subject Headings assigned to publication",
                        "isNumerical": false,
                        "singleToken": true
                      },
                      {
                        "name": "MAJR",
                        "isDate": false,
                        "fullName": "MeSH Major Topic",
                        "isHidden": false,
                        "hierarchy": true,
                        "termCount": null,
                        "description": "MeSH terms of major importance to publication",
                        "isNumerical": false,
                        "singleToken": true
                      },
                      {
                        "name": "JOUR",
                        "isDate": false,
                        "fullName": "Journal",
                        "isHidden": false,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "Journal abbreviation of publication",
                        "isNumerical": false,
                        "singleToken": true
                      },
                      {
                        "name": "AFFL",
                        "isDate": false,
                        "fullName": "Affiliation",
                        "isHidden": false,
                        "hierarchy": false,
                        "termCount": null,
                        "description": "Author's institutional affiliation and address",
                        "isNumerical": false,
                        "singleToken": false
                      }
                    ],
                    "menuName": "PubMed",
                    "provider": "pubmed",
                    "linkCount": 47,
                    "fieldCount": 48,
                    "lastUpdate": "2026/08/29 12:19",
                    "description": "PubMed bibliographic record",
                    "recordCount": 41081950
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/databases": {
      "get": {
        "operationId": "research_pubmed_databases",
        "summary": "Databases",
        "description": "NCBI's 429 body echoes our egress address back inside an `api-key` field.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-databases"
        },
        "parameters": [],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "count": 37,
                    "items": [
                      {
                        "db": "pubmed"
                      },
                      {
                        "db": "protein"
                      },
                      {
                        "db": "nuccore"
                      },
                      {
                        "db": "ipg"
                      },
                      {
                        "db": "nucleotide"
                      },
                      {
                        "db": "structure"
                      },
                      {
                        "db": "genome"
                      },
                      {
                        "db": "grasp"
                      }
                    ],
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/entity-autocomplete": {
      "get": {
        "operationId": "research_pubmed_entity_autocomplete",
        "summary": "Entity Autocomplete",
        "description": "PubTator3 concept suggestions. The `_id` it returns is the accession the search and relations endpoints take, so it is surfaced as `conceptId` rather than dropped.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-entity-autocomplete"
        },
        "parameters": [
          {
            "name": "query",
            "in": "query",
            "required": true,
            "description": "Partial entity name to complete",
            "schema": {
              "type": "string",
              "example": "covid"
            }
          },
          {
            "name": "concept",
            "in": "query",
            "required": false,
            "description": "Restrict suggestions to one entity type",
            "schema": {
              "type": "string",
              "enum": [
                "gene",
                "disease",
                "chemical",
                "species",
                "variant",
                "cellline"
              ],
              "example": "gene"
            }
          },
          {
            "name": "limit",
            "in": "query",
            "required": false,
            "description": "Maximum suggestions to return. Default 10",
            "schema": {
              "type": "number",
              "example": "10"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "count": 10,
                    "items": [
                      {
                        "name": "COVID-19",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_COVID_19",
                        "matchedOn": "Matched on name COVID-19",
                        "databaseId": "D000086382",
                        "description": null
                      },
                      {
                        "name": "Post-Acute COVID-19 Syndrome",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_Post_Acute_COVID_19_Syndrome",
                        "matchedOn": "Multiple matches",
                        "databaseId": "D000094024",
                        "description": null
                      },
                      {
                        "name": "pediatric multisystem inflammatory disease COVID-19 related",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_pediatric_multisystem_inflammatory_disease_COVID_19_related",
                        "matchedOn": "Multiple matches",
                        "databaseId": "C000705967",
                        "description": null
                      },
                      {
                        "name": "adult multisystem inflammatory disease COVID-19 related",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_adult_multisystem_inflammatory_disease_COVID_19_related",
                        "matchedOn": "Matched on synonyms COVID-19-associated multisystem inflammatory syndrome in adults",
                        "databaseId": "C000718087",
                        "description": null
                      },
                      {
                        "name": "COVID-19 stress syndrome",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_COVID_19_stress_syndrome",
                        "matchedOn": "Matched on name COVID-19 stress syndrome",
                        "databaseId": "C000711430",
                        "description": null
                      },
                      {
                        "name": "COVID-19 post-intensive care syndrome",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_COVID_19_post_intensive_care_syndrome",
                        "matchedOn": "Matched on name COVID-19 post-intensive care syndrome",
                        "databaseId": "C000711429",
                        "description": null
                      },
                      {
                        "name": "COVID-19 reinfection",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_COVID_19_reinfection",
                        "matchedOn": "Matched on name COVID-19 reinfection",
                        "databaseId": "C000722979",
                        "description": null
                      },
                      {
                        "name": "COVID-19 breakthrough infections",
                        "biotype": "disease",
                        "database": "ncbi_mesh",
                        "conceptId": "@DISEASE_COVID_19_breakthrough_infections",
                        "matchedOn": "Matched on name COVID-19 breakthrough infections",
                        "databaseId": "C000718127",
                        "description": null
                      }
                    ],
                    "query": "covid",
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/entity-relations": {
      "get": {
        "operationId": "research_pubmed_entity_relations",
        "summary": "Entity Relations",
        "description": "PubTator3 curated relations. An unfiltered e1 can answer 158 KB, so the result is capped here and the upstream length is reported alongside it.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-entity-relations"
        },
        "parameters": [
          {
            "name": "e1",
            "in": "query",
            "required": true,
            "description": "First concept id, from entity-autocomplete",
            "schema": {
              "type": "string",
              "example": "@CHEMICAL_Doxorubicin"
            }
          },
          {
            "name": "type",
            "in": "query",
            "required": false,
            "description": "Relation type. Default ANY",
            "schema": {
              "type": "string",
              "enum": [
                "ANY",
                "treat",
                "cause",
                "cotreat",
                "compare",
                "interact",
                "inhibit",
                "stimulate",
                "drug_interact",
                "associate",
                "prevent",
                "positive_correlate",
                "negative_correlate"
              ],
              "example": "treat"
            }
          },
          {
            "name": "e2",
            "in": "query",
            "required": false,
            "description": "Second concept id, to pin both ends of the relation",
            "schema": {
              "type": "string",
              "example": "@DISEASE_Neoplasms"
            }
          },
          {
            "name": "limit",
            "in": "query",
            "required": false,
            "description": "Maximum relations to return. Default 100",
            "schema": {
              "type": "number",
              "example": "100"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "e1": "@CHEMICAL_Doxorubicin",
                    "e2": "@DISEASE_Neoplasms",
                    "type": "treat",
                    "count": 1,
                    "items": [
                      {
                        "type": "treat",
                        "source": "@CHEMICAL_Doxorubicin",
                        "target": "@DISEASE_Neoplasms",
                        "publications": 14872
                      }
                    ],
                    "limit": 3,
                    "total": 1,
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/fetch-records": {
      "get": {
        "operationId": "research_pubmed_fetch_records",
        "summary": "Fetch Records",
        "description": "efetch: full records. The payload is XML, MEDLINE text or FASTA depending on rettype — never JSON — so it is handed back verbatim rather than half-parsed.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-fetch-records"
        },
        "parameters": [
          {
            "name": "id",
            "in": "query",
            "required": true,
            "description": "Comma-separated UIDs, max 200 per call",
            "schema": {
              "type": "string",
              "example": "33301246,32109013"
            }
          },
          {
            "name": "db",
            "in": "query",
            "required": false,
            "description": "Entrez database. Default pubmed",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "rettype",
            "in": "query",
            "required": false,
            "description": "Record type. Valid values depend on the database",
            "schema": {
              "type": "string",
              "enum": [
                "abstract",
                "medline",
                "uilist",
                "fasta",
                "gb",
                "gp",
                "docsum",
                "full",
                "native",
                "xml"
              ],
              "example": "medline"
            }
          },
          {
            "name": "retmode",
            "in": "query",
            "required": false,
            "description": "Payload encoding. Default xml",
            "schema": {
              "type": "string",
              "enum": [
                "xml",
                "text",
                "asn.1"
              ],
              "example": "xml"
            }
          },
          {
            "name": "retstart",
            "in": "query",
            "required": false,
            "description": "Offset into the record set when fetching from history",
            "schema": {
              "type": "number",
              "example": "0"
            }
          },
          {
            "name": "retmax",
            "in": "query",
            "required": false,
            "description": "Maximum records to return. Upstream caps at 10000",
            "schema": {
              "type": "number",
              "example": "100"
            }
          },
          {
            "name": "strand",
            "in": "query",
            "required": false,
            "description": "Sequence strand, 1 plus and 2 minus. Sequence databases only",
            "schema": {
              "type": "string",
              "enum": [
                "1",
                "2"
              ],
              "example": "1"
            }
          },
          {
            "name": "seqStart",
            "in": "query",
            "required": false,
            "description": "First sequence base to retrieve. Sequence databases only",
            "schema": {
              "type": "number",
              "example": "1"
            }
          },
          {
            "name": "seqStop",
            "in": "query",
            "required": false,
            "description": "Last sequence base to retrieve. Sequence databases only",
            "schema": {
              "type": "number",
              "example": "200"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "db": "pubmed",
                    "ids": [
                      "33301246",
                      "32109013"
                    ],
                    "type": "medline",
                    "bytes": 206336,
                    "format": "xml",
                    "content": "<?xml version=\"1.0\" ?>\n<!DOCTYPE PubmedArticleSet PUBLIC \"-//NLM//DTD PubMedArticle, 1st January 2025//EN\" \"https://dtd.nlm.nih.gov/ncbi/pubmed/out/pubmed_250101.dtd\">\n<PubmedArticleSet>\n<PubmedArticle><MedlineCitation Status=\"MEDLINE\" Owner=\"NLM\" IndexingMethod=\"Manual\"><PMID Version=\"1\">33301246</PMID><DateCompleted><Year>2021</Year><Month>01</Month><Day>12</Day></DateCompleted><DateRevised><Year>2026</Year><Month>05</Month><Day>18</Day></DateRevised><Article PubModel=\"Print-Electronic\"><Journal><ISSN IssnType=\"Electronic\">1533-4406</ISSN><JournalIssue CitedMedium=\"Internet\"><Volume>383</Volume><Issue>27</Issue><PubDate><Year>2020</Year><Month>Dec</Month><Day>31</Day></PubDate></JournalIssue><Title>The New England journal of medicine</Title><ISOAbbreviation>N Engl J Med</ISOAbbreviation></Journal><ArticleTitle>Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.</ArticleTitle><Pagination><StartPage>2603</StartPage><EndPage>2615</EndPage><MedlinePgn>2603-2615</MedlinePgn></Pagination><ELocationID EIdType=\"pii\" ValidYN=\"Y\">NEJMoa2034577</ELocationID><ELocationID EIdType=\"doi\" ValidYN=\"Y\">10.1056/NEJMoa2034577</ELocationID><Abstract><AbstractText Label=\"BACKGROUND\">Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the resulting coronavirus disease 2019 (Covid-19) have afflicted tens of millions of people in a worldwide pandemic. Safe and effective vaccines are needed urgently.</AbstractText><AbstractText Label=\"METHODS\">In an ongoing multinational, placebo-controlled, observer-blinded, pivotal efficacy trial, we randomly assigned persons 16 years of age or older in a 1:1 ratio to receive two doses, 21 days apart, of either placebo or the BNT162b2 vaccine candidate (30 &#x3bc;g per dose). BNT162b2 is a lipid nanoparticle-formulated, nucleoside-modified RNA vaccine that encodes a prefusion stabilized, membrane-anchored SARS-CoV-2 full-length spike protein. The primary end points were efficacy of the vaccine against laboratory-confirmed Covid-19 and safety.</AbstractText><AbstractText Label=\"RESULTS\">A total of 43,548 participants underwent randomization, of whom 43,448 received injections: 21,720 with BNT162b2 and 21,728 with placebo. There were 8 cases of Covid-19 with onset at least 7 days after the second dose among participants assigned to receive BNT162b2 and 162 cases among those assigned to placebo; BNT162b2 was 95% effective in preventing Covid-19 (95% credible interval, 90.3 to 97.6). Similar vaccine efficacy (generally 90 to 100%) was observed across subgroups defined by age, sex, race, ethnicity, baseline body-mass index, and the presence of coexisting conditions. Among 10 cases of severe Covid-19 with onset after the first dose, 9 occurred in placebo recipients and 1 in a BNT162b2 recipient. The safety profile of BNT162b2 was characterized by short-term, mild-to-moderate pain at the injection site, fatigue, and headache. The incidence of serious adverse events was low and was similar in the vaccine and placebo groups.</AbstractText><AbstractText Label=\"CONCLUSIONS\">A two-dose regimen of BNT162b2 conferred 95% protection against Covid-19 in persons 16 years of age or older. Safety over a median of 2 months was similar to that of other viral vaccines. (Funded by BioNTech and Pfizer; ClinicalTrials.gov number, NCT04368728.).</AbstractText><CopyrightInformation>Copyright &#xa9; 2020 Massachusetts Medical Society.</CopyrightInformation></Abstract><AuthorList CompleteYN=\"Y\"><Author ValidYN=\"Y\"><LastName>Polack</LastName><ForeName>Fernando P</ForeName><Initials>FP</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Thomas</LastName><ForeName>Stephen J</ForeName><Initials>SJ</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Kitchin</LastName><ForeName>Nicholas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Absalon</LastName><ForeName>Judith</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Gurtman</LastName><ForeName>Alejandra</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Lockhart</LastName><ForeName>Stephen</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Perez</LastName><ForeName>John L</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>P&#xe9;rez Marc</LastName><ForeName>Gonzalo</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Moreira</LastName><ForeName>Edson D</ForeName><Initials>ED</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Zerbini</LastName><ForeName>Cristiano</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Bailey</LastName><ForeName>Ruth</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Swanson</LastName><ForeName>Kena A</ForeName><Initials>KA</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Roychoudhury</LastName><ForeName>Satrajit</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Koury</LastName><ForeName>Kenneth</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Li</LastName><ForeName>Ping</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Kalina</LastName><ForeName>Warren V</ForeName><Initials>WV</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Cooper</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Frenck</LastName><ForeName>Robert W</ForeName><Initials>RW</Initials><Suffix>Jr</Suffix><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Hammitt</LastName><ForeName>Laura L</ForeName><Initials>LL</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>T&#xfc;reci</LastName><ForeName>&#xd6;zlem</ForeName><Initials>&#xd6;</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Nell</LastName><ForeName>Haylene</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Schaefer</LastName><ForeName>Axel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>&#xdc;nal</LastName><ForeName>Serhat</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Tresnan</LastName><ForeName>Dina B</ForeName><Initials>DB</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Mather</LastName><ForeName>Susan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Dormitzer</LastName><ForeName>Philip R</ForeName><Initials>PR</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>&#x15e;ahin</LastName><ForeName>U&#x11f;ur</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Jansen</LastName><ForeName>Kathrin U</ForeName><Initials>KU</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Gruber</LastName><ForeName>William C</ForeName><Initials>WC</Initials><AffiliationInfo><Affiliation>From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associa&#xe7;&#xe3;o Obras Sociais Irm&#xe3; Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investiga&#xe7;&#xe3;o Clinica, S&#xe3;o Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (&#xd6;T., U.&#x15e;.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.&#xdc;.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.).</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><CollectiveName>C4591001 Clinical Trial Group</CollectiveName></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN=\"Y\"><DataBank><DataBankName>ClinicalTrials.gov</DataBankName><AccessionNumberList><AccessionNumber>NCT04368728</AccessionNumber></AccessionNumberList></DataBank></DataBankList><PublicationTypeList><PublicationType UI=\"D017427\">Clinical Trial, Phase II</PublicationType><PublicationType UI=\"D017428\">Clinical Trial, Phase III</PublicationType><PublicationType UI=\"D016428\">Journal Article</PublicationType><PublicationType UI=\"D016448\">Multicenter Study</PublicationType><PublicationType 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Vaccines</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType=\"CommentIn\"><RefSource>N Engl J Med. 2020 Dec 31;383(27):2677-2678. doi: 10.1056/NEJMe2034717.</RefSource><PMID Version=\"1\">33301245</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>Nature. 2020 Dec;588(7838):377-378. doi: 10.1038/d41586-020-03542-4.</RefSource><PMID Version=\"1\">33311629</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>Semergen. 2021 Jan-Feb;47(1):1-3. doi: 10.1016/j.semerg.2020.12.005.</RefSource><PMID Version=\"1\">33478841</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>Panminerva Med. 2022 Mar;64(1):131-132. doi: 10.23736/S0031-0808.21.04286-5.</RefSource><PMID Version=\"1\">33480519</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>Ann Intern Med. 2021 Feb;174(2):JC15. doi: 10.7326/ACPJ202102160-015.</RefSource><PMID Version=\"1\">33524290</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>MMW Fortschr Med. 2021 Feb;163(2):24-25. doi: 10.1007/s15006-021-9577-4.</RefSource><PMID Version=\"1\">33527275</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>N Engl J Med. 2021 Apr 22;384(16):1576-1577. doi: 10.1056/NEJMc2036242.</RefSource><PMID Version=\"1\">33596348</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>N Engl J Med. 2021 Apr 22;384(16):1577. doi: 10.1056/NEJMc2036242.</RefSource><PMID Version=\"1\">33596349</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>N Engl J Med. 2021 Apr 22;384(16):1577-1578. doi: 10.1056/NEJMc2036242.</RefSource><PMID Version=\"1\">33596350</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>Virol Sin. 2021 Oct;36(5):1097-1103. doi: 10.1007/s12250-021-00408-5.</RefSource><PMID Version=\"1\">34061319</PMID></CommentsCorrections><CommentsCorrections RefType=\"CommentIn\"><RefSource>N Engl J Med. 2022 Mar 24;386(12):1176-1179. doi: 10.1056/NEJMe2202547.</RefSource><PMID Version=\"1\">35196425</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI=\"D000293\" MajorTopicYN=\"N\">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI=\"D000328\" MajorTopicYN=\"N\">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI=\"D000368\" MajorTopicYN=\"N\">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI=\"D000090982\" MajorTopicYN=\"N\">BNT162 Vaccine</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI=\"D000086382\" MajorTopicYN=\"N\">COVID-19</DescriptorName><QualifierName UI=\"Q000276\" MajorTopicYN=\"N\">immunology</QualifierName><QualifierName UI=\"Q000517\" MajorTopicYN=\"Y\">prevention &amp; 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ValidYN=\"Y\"><LastName>Walsh</LastName><ForeName>Walsh</ForeName><Initials>W</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Walter</LastName><ForeName>Emmanuel</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Wappner</LastName><ForeName>Diego</ForeName><Initials>D</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Whiles</LastName><ForeName>Rick</ForeName><Initials>R</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Williams</LastName><ForeName>Hayes</ForeName><Initials>H</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Wilson</LastName><ForeName>Jonathan</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Winkle</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Winokur</LastName><ForeName>Patricia</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Wolf</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Yozviak</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Investigator><Investigator ValidYN=\"Y\"><LastName>Zerbini</LastName><ForeName>Cristiano</ForeName><Initials>C</Initials></Investigator></InvestigatorList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus=\"pubmed\"><Year>2020</Year><Month>12</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus=\"medline\"><Year>2021</Year><Month>1</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus=\"entrez\"><Year>2020</Year><Month>12</Month><Day>10</Day><Hour>12</Hour><Minute>20</Minute></PubMedPubDate><PubMedPubDate PubStatus=\"pmc-release\"><Year>2020</Year><Month>12</Month><Day>17</Day></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId 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Shringrix (zoster vaccine recombinant, adjuvanted) product information. 2019 (https://www.fda.gov/vaccines-blood-biologics/vaccines/shingrix).</Citation></Reference></ReferenceList></PubmedData></PubmedArticle><PubmedArticle><MedlineCitation Status=\"MEDLINE\" Owner=\"NLM\" IndexingMethod=\"Manual\"><PMID Version=\"1\">32109013</PMID><DateCompleted><Year>2020</Year><Month>05</Month><Day>05</Day></DateCompleted><DateRevised><Year>2026</Year><Month>05</Month><Day>18</Day></DateRevised><Article PubModel=\"Print-Electronic\"><Journal><ISSN IssnType=\"Electronic\">1533-4406</ISSN><JournalIssue CitedMedium=\"Internet\"><Volume>382</Volume><Issue>18</Issue><PubDate><Year>2020</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>The New England journal of medicine</Title><ISOAbbreviation>N Engl J Med</ISOAbbreviation></Journal><ArticleTitle>Clinical Characteristics of Coronavirus Disease 2019 in China.</ArticleTitle><Pagination><StartPage>1708</StartPage><EndPage>1720</EndPage><MedlinePgn>1708-1720</MedlinePgn></Pagination><ELocationID EIdType=\"pii\" ValidYN=\"Y\">NEJMoa2002032</ELocationID><ELocationID EIdType=\"doi\" ValidYN=\"Y\">10.1056/NEJMoa2002032</ELocationID><Abstract><AbstractText Label=\"BACKGROUND\">Since December 2019, when coronavirus disease 2019 (Covid-19) emerged in Wuhan city and rapidly spread throughout China, data have been needed on the clinical characteristics of the affected patients.</AbstractText><AbstractText Label=\"METHODS\">We extracted data regarding 1099 patients with laboratory-confirmed Covid-19 from 552 hospitals in 30 provinces, autonomous regions, and municipalities in mainland China through January 29, 2020. The primary composite end point was admission to an intensive care unit (ICU), the use of mechanical ventilation, or death.</AbstractText><AbstractText Label=\"RESULTS\">The median age of the patients was 47 years; 41.9% of the patients were female. The primary composite end point occurred in 67 patients (6.1%), including 5.0% who were admitted to the ICU, 2.3% who underwent invasive mechanical ventilation, and 1.4% who died. Only 1.9% of the patients had a history of direct contact with wildlife. Among nonresidents of Wuhan, 72.3% had contact with residents of Wuhan, including 31.3% who had visited the city. The most common symptoms were fever (43.8% on admission and 88.7% during hospitalization) and cough (67.8%). Diarrhea was uncommon (3.8%). The median incubation period was 4 days (interquartile range, 2 to 7). On admission, ground-glass opacity was the most common radiologic finding on chest computed tomography (CT) (56.4%). No radiographic or CT abnormality was found in 157 of 877 patients (17.9%) with nonsevere disease and in 5 of 173 patients (2.9%) with severe disease. Lymphocytopenia was present in 83.2% of the patients on admission.</AbstractText><AbstractText Label=\"CONCLUSIONS\">During the first 2 months of the current outbreak, Covid-19 spread rapidly throughout China and caused varying degrees of illness. Patients often presented without fever, and many did not have abnormal radiologic findings. (Funded by the National Health Commission of China and others.).</AbstractText><CopyrightInformation>Copyright &#xa9; 2020 Massachusetts Medical Society.</CopyrightInformation></Abstract><AuthorList CompleteYN=\"Y\"><Author ValidYN=\"Y\"><LastName>Guan</LastName><ForeName>Wei-Jie</ForeName><Initials>WJ</Initials><Identifier Source=\"ORCID\">0000-0001-5463-391X</Identifier><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Ni</LastName><ForeName>Zheng-Yi</ForeName><Initials>ZY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Hu</LastName><ForeName>Yu</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Liang</LastName><ForeName>Wen-Hua</ForeName><Initials>WH</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Ou</LastName><ForeName>Chun-Quan</ForeName><Initials>CQ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>He</LastName><ForeName>Jian-Xing</ForeName><Initials>JX</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Liu</LastName><ForeName>Lei</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Shan</LastName><ForeName>Hong</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Lei</LastName><ForeName>Chun-Liang</ForeName><Initials>CL</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Hui</LastName><ForeName>David S C</ForeName><Initials>DSC</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Du</LastName><ForeName>Bin</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Li</LastName><ForeName>Lan-Juan</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Zeng</LastName><ForeName>Guang</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Yuen</LastName><ForeName>Kwok-Yung</ForeName><Initials>KY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Chen</LastName><ForeName>Ru-Chong</ForeName><Initials>RC</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Tang</LastName><ForeName>Chun-Li</ForeName><Initials>CL</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Wang</LastName><ForeName>Tao</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Chen</LastName><ForeName>Ping-Yan</ForeName><Initials>PY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Xiang</LastName><ForeName>Jie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Li</LastName><ForeName>Shi-Yue</ForeName><Initials>SY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Wang</LastName><ForeName>Jin-Lin</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Liang</LastName><ForeName>Zi-Jing</ForeName><Initials>ZJ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Peng</LastName><ForeName>Yi-Xiang</ForeName><Initials>YX</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Wei</LastName><ForeName>Li</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Liu</LastName><ForeName>Yong</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Hu</LastName><ForeName>Ya-Hua</ForeName><Initials>YH</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Peng</LastName><ForeName>Peng</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Wang</LastName><ForeName>Jian-Ming</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Liu</LastName><ForeName>Ji-Yang</ForeName><Initials>JY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Chen</LastName><ForeName>Zhong</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Li</LastName><ForeName>Gang</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Zheng</LastName><ForeName>Zhi-Jian</ForeName><Initials>ZJ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Qiu</LastName><ForeName>Shao-Qin</ForeName><Initials>SQ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Luo</LastName><ForeName>Jie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Ye</LastName><ForeName>Chang-Jiang</ForeName><Initials>CJ</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Zhu</LastName><ForeName>Shao-Yong</ForeName><Initials>SY</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. Luo), and Xiantao First People's Hospital, Xiantao (C.Y.) - all in China.</Affiliation></AffiliationInfo></Author><Author ValidYN=\"Y\"><LastName>Zhong</LastName><ForeName>Nan-Shan</ForeName><Initials>NS</Initials><AffiliationInfo><Affiliation>From the State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University (W.G., W.L., J.H., R.C., C.T., T.W., S.L., Jin-lin Wang, N.Z., J.H., W.L.), the Departments of Thoracic Oncology (W.L.), Thoracic Surgery and Oncology (J.H.), and Emergency Medicine (Z.L.), First Affiliated Hospital of Guangzhou Medical University, and Guangzhou Eighth People's Hospital, Guangzhou Medical University (C.L.), and the State Key Laboratory of Organ Failure Research, Department of Biostatistics, Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University (C.O., P.C.), Guangzhou, Wuhan Jinyintan Hospital (Z.N., J.X.), Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (Yu Hu), the Central Hospital of Wuhan (Y.P.), Wuhan No. 1 Hospital, Wuhan Hospital of Traditional Chinese and Western Medicine (L.W.), Wuhan Pulmonary Hospital (P.P.), Tianyou Hospital Affiliated to Wuhan University of Science and Technology (Jian-ming Wang), and the People's Hospital of Huangpi District (S.Z.), Wuhan, Shenzhen Third People's Hospital and the Second Affiliated Hospital of Southern University of Science and Technology, National Clinical Research Center for Infectious Diseases (L. Liu), and the Department of Clinical Microbiology and Infection Control, University of Hong Kong-Shenzhen Hospital (K.-Y.Y.), Shenzhen, the Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai (H.S.), the Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin (D.S.C.H.), and the Department of Microbiology and the Carol Yu Center for Infection, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pok Fu Lam (K.-Y.Y.), Hong Kong, Medical ICU, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences (B.D.), and the Chinese Center for Disease Control and Prevention (G.Z.), Beijing, the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou (L. Li), Chengdu Public Health Clinical Medical Center, Chengdu (Y.L.), Huangshi Central Hospital of Edong Healthcare Group, Affiliated Hospital of Hubei Polytechnic University, Huangshi (Ya-hua Hu), the First Hospital of Changsha, Changsha (J. Liu), the Third People's Hospital of Hainan Province, Sanya (Z.C.), Huanggang Central Hospital, Huanggang (G.L.), Wenling First People's Hospital, Wenling (Z.Z.), the Third People's Hospital of Yichang, Yichang (S.Q.), Affiliated Taihe Hospital of Hubei University of Medicine, Shiyan (J. 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              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/id-convert": {
      "get": {
        "operationId": "research_pubmed_id_convert",
        "summary": "Id Convert",
        "description": "PMC ID converter. It rejects a mixed batch with a 400, so the id type is declared and every value checked against it before the call. Its `email is missing` warning",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-id-convert"
        },
        "parameters": [
          {
            "name": "ids",
            "in": "query",
            "required": true,
            "description": "Comma-separated ids, all of the same type, max 200",
            "schema": {
              "type": "string",
              "example": "33301246,32109013"
            }
          },
          {
            "name": "idtype",
            "in": "query",
            "required": true,
            "description": "Type of every id in the batch — mixed types are rejected",
            "schema": {
              "type": "string",
              "enum": [
                "pmid",
                "pmcid",
                "doi",
                "mid"
              ],
              "example": "pmid"
            }
          },
          {
            "name": "versions",
            "in": "query",
            "required": false,
            "description": "Include every PMC version of the record. Default false",
            "schema": {
              "type": "string",
              "enum": [
                "true",
                "false"
              ],
              "example": "false"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "count": 2,
                    "items": [
                      {
                        "doi": "10.1056/NEJMoa2034577",
                        "mid": null,
                        "pmid": "33301246",
                        "pmcid": "PMC7745181",
                        "reason": null,
                        "status": null,
                        "requestedId": "33301246"
                      },
                      {
                        "doi": "10.1056/NEJMoa2002032",
                        "mid": null,
                        "pmid": "32109013",
                        "pmcid": "PMC7092819",
                        "reason": null,
                        "status": null,
                        "requestedId": "32109013"
                      }
                    ],
                    "idType": "pmid",
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/link-check": {
      "get": {
        "operationId": "research_pubmed_link_check",
        "summary": "Link Check",
        "description": "elink acheck/ncheck/lcheck: which link types exist for a UID, without pulling the links themselves. acheck answers with a per-id catalogue, ncheck and lcheck",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-link-check"
        },
        "parameters": [
          {
            "name": "id",
            "in": "query",
            "required": true,
            "description": "Comma-separated source UIDs, max 100 per call",
            "schema": {
              "type": "string",
              "example": "33301246,32109013"
            }
          },
          {
            "name": "dbfrom",
            "in": "query",
            "required": false,
            "description": "Source database. Default pubmed",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "cmd",
            "in": "query",
            "required": false,
            "description": "acheck lists every link type, ncheck reports whether related records exist, lcheck whether external LinkOut providers exist. Default acheck",
            "schema": {
              "type": "string",
              "enum": [
                "acheck",
                "ncheck",
                "lcheck"
              ],
              "example": "acheck"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "cmd": "acheck",
                    "ids": [
                      "33301246",
                      "32109013"
                    ],
                    "count": 2,
                    "items": [
                      {
                        "id": "33301246",
                        "count": 13,
                        "links": [
                          {
                            "dbTo": "books",
                            "htmlTag": "Cited in Books",
                            "menuTag": "Cited in Books",
                            "linkName": "pubmed_books_refs",
                            "priority": 185
                          },
                          {
                            "dbTo": "medgen",
                            "htmlTag": "MedGen",
                            "menuTag": "MedGen",
                            "linkName": "pubmed_medgen",
                            "priority": 128
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": null,
                            "menuTag": "PMC Links",
                            "linkName": "pubmed_pmc",
                            "priority": 175
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": "Free in PMC",
                            "menuTag": null,
                            "linkName": "pubmed_pmc_local",
                            "priority": 175
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": "Cited in PMC",
                            "menuTag": "Cited in PMC",
                            "linkName": "pubmed_pmc_refs",
                            "priority": 180
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Similar articles",
                            "menuTag": "Similar articles",
                            "linkName": "pubmed_pubmed",
                            "priority": 1
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Cited In",
                            "menuTag": "Cited In",
                            "linkName": "pubmed_pubmed_citedin",
                            "priority": 128
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Combined set of related Articles and Reviews",
                            "menuTag": "Combined set of related Articles and Reviews",
                            "linkName": "pubmed_pubmed_combined",
                            "priority": 1
                          }
                        ]
                      },
                      {
                        "id": "32109013",
                        "count": 12,
                        "links": [
                          {
                            "dbTo": "books",
                            "htmlTag": "Cited in Books",
                            "menuTag": "Cited in Books",
                            "linkName": "pubmed_books_refs",
                            "priority": 185
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": null,
                            "menuTag": "PMC Links",
                            "linkName": "pubmed_pmc",
                            "priority": 175
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": "Free in PMC",
                            "menuTag": null,
                            "linkName": "pubmed_pmc_local",
                            "priority": 175
                          },
                          {
                            "dbTo": "pmc",
                            "htmlTag": "Cited in PMC",
                            "menuTag": "Cited in PMC",
                            "linkName": "pubmed_pmc_refs",
                            "priority": 180
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Similar articles",
                            "menuTag": "Similar articles",
                            "linkName": "pubmed_pubmed",
                            "priority": 1
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Cited In",
                            "menuTag": "Cited In",
                            "linkName": "pubmed_pubmed_citedin",
                            "priority": 128
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Combined set of related Articles and Reviews",
                            "menuTag": "Combined set of related Articles and Reviews",
                            "linkName": "pubmed_pubmed_combined",
                            "priority": 1
                          },
                          {
                            "dbTo": "pubmed",
                            "htmlTag": "Five most related Articles",
                            "menuTag": "Five most related Articles",
                            "linkName": "pubmed_pubmed_five",
                            "priority": 1
                          }
                        ]
                      }
                    ],
                    "dbFrom": "pubmed",
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/link-provider": {
      "get": {
        "operationId": "research_pubmed_link_provider",
        "summary": "Link Provider",
        "description": "elink llinks/prlinks: LinkOut provider URLs. Icon paths come back host-relative, so they are resolved against NCBI's own host to stay usable.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-link-provider"
        },
        "parameters": [
          {
            "name": "id",
            "in": "query",
            "required": true,
            "description": "Comma-separated source UIDs, max 100 per call",
            "schema": {
              "type": "string",
              "example": "33301246"
            }
          },
          {
            "name": "dbfrom",
            "in": "query",
            "required": false,
            "description": "Source database. Default pubmed",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "cmd",
            "in": "query",
            "required": false,
            "description": "llinks returns every LinkOut provider, prlinks only the publisher full-text links. Default llinks",
            "schema": {
              "type": "string",
              "enum": [
                "llinks",
                "prlinks"
              ],
              "example": "llinks"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "cmd": "llinks",
                    "ids": [
                      "33301246"
                    ],
                    "count": 1,
                    "items": [
                      {
                        "id": "33301246",
                        "count": 9,
                        "links": [
                          {
                            "url": "https://www.nejm.org/doi/10.1056/NEJMoa2034577?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub  0pubmed",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nejm.org-pb-assets-images-editorial-icons-nejm-full-text.gif",
                            "linkName": null,
                            "attributes": [
                              "subscription/membership/fee required"
                            ],
                            "categories": [
                              "Full Text Sources"
                            ],
                            "providerId": "4487",
                            "providerAbbr": "ATYPON",
                            "providerName": "Atypon"
                          },
                          {
                            "url": "https://clinicaltrials.gov/search?term=AREA%5BReferencePMID%5D33301246",
                            "iconUrl": null,
                            "linkName": null,
                            "attributes": [
                              "free resource"
                            ],
                            "categories": [
                              "Medical"
                            ],
                            "providerId": "3654",
                            "providerAbbr": "CTgov",
                            "providerName": "ClinicalTrials.gov"
                          },
                          {
                            "url": "https://medlineplus.gov/covid19vaccines.html",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--medlineplus.gov-images-linkout_sm.gif",
                            "linkName": "COVID-19 Vaccines",
                            "attributes": [
                              "free resource"
                            ],
                            "categories": [
                              "Medical"
                            ],
                            "providerId": "3162",
                            "providerAbbr": "MEDPLUS",
                            "providerName": "MedlinePlus Health Information"
                          },
                          {
                            "url": "https://www.ovid.com/33301246.pmid",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--tools.ovid.com-images-ovidlogo.jpg",
                            "linkName": null,
                            "attributes": [
                              "subscription/membership/fee required"
                            ],
                            "categories": [
                              "Full Text Sources"
                            ],
                            "providerId": "3682",
                            "providerAbbr": "Ovid",
                            "providerName": "Ovid Technologies, Inc."
                          },
                          {
                            "url": "https://pmc.ncbi.nlm.nih.gov/articles/pmid/33301246/",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--cdn.ncbi.nlm.nih.gov-pmc-cms-images-pmc_linkout.png",
                            "linkName": null,
                            "attributes": [
                              "free resource"
                            ],
                            "categories": [
                              "Full Text Sources"
                            ],
                            "providerId": "3494",
                            "providerAbbr": "PMC",
                            "providerName": "PubMed Central"
                          },
                          {
                            "url": "https://europepmc.org/abstract/MED/33301246",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.ncbi.nlm.nih.gov-corehtml-pmc-pmcgifs-EPMC.gif",
                            "linkName": null,
                            "attributes": [
                              "free resource"
                            ],
                            "categories": [
                              "Full Text Sources"
                            ],
                            "providerId": "6082",
                            "providerAbbr": "UKPMC",
                            "providerName": "Europe PMC"
                          },
                          {
                            "url": "https://assays.cancer.gov/CPTAC-438",
                            "iconUrl": null,
                            "linkName": null,
                            "attributes": [
                              "free resource"
                            ],
                            "categories": [
                              "Miscellaneous"
                            ],
                            "providerId": "8855",
                            "providerAbbr": "assaysnci",
                            "providerName": "NCI CPTAC Assay Portal"
                          },
                          {
                            "url": "https://facultyopinions.com/pubmed/33301246",
                            "iconUrl": "https://www.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--s3.eu-west-1.amazonaws.com-cdn.science-now.com-images-FObadge128x28.png",
                            "linkName": "See the articles recommended by the Faculty of more than 8,000 leading experts in Biology and Medicine.",
                            "attributes": [
                              "subscription/membership/fee required"
                            ],
                            "categories": [
                              "Other Literature Sources"
                            ],
                            "providerId": "3533",
                            "providerAbbr": "fopinions",
                            "providerName": "H1 Connect - Access expert opinions and insights on biomedical research."
                          }
                        ]
                      }
                    ],
                    "dbFrom": "pubmed",
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/link": {
      "get": {
        "operationId": "research_pubmed_link",
        "summary": "Link",
        "description": "elink neighbour modes. cmd=neighbor_score returned 310 KB for a single PMID, so maxLinks caps each link array before the payload rather than after it.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-link"
        },
        "parameters": [
          {
            "name": "id",
            "in": "query",
            "required": true,
            "description": "Comma-separated source UIDs, max 100 per call",
            "schema": {
              "type": "string",
              "example": "33301246"
            }
          },
          {
            "name": "dbfrom",
            "in": "query",
            "required": false,
            "description": "Source database. Default pubmed",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "db",
            "in": "query",
            "required": false,
            "description": "Target database. Defaults to dbfrom",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pmc"
            }
          },
          {
            "name": "cmd",
            "in": "query",
            "required": false,
            "description": "Link mode. neighbor_score adds a relatedness score. Default neighbor",
            "schema": {
              "type": "string",
              "enum": [
                "neighbor",
                "neighbor_score",
                "neighbor_history"
              ],
              "example": "neighbor"
            }
          },
          {
            "name": "linkname",
            "in": "query",
            "required": false,
            "description": "Restrict to one named link set",
            "schema": {
              "type": "string",
              "example": "pubmed_pmc"
            }
          },
          {
            "name": "maxLinks",
            "in": "query",
            "required": false,
            "description": "Cap on links kept per link set. Default 200",
            "schema": {
              "type": "number",
              "example": "200"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "db": "pmc",
                    "cmd": "neighbor",
                    "ids": [
                      "33301246"
                    ],
                    "count": 1,
                    "items": [
                      {
                        "dbTo": "pmc",
                        "count": 1,
                        "links": [
                          {
                            "id": "7745181"
                          }
                        ],
                        "dbFrom": "pubmed",
                        "linkName": "pubmed_pmc",
                        "sourceIds": [
                          "33301246"
                        ],
                        "truncated": false
                      }
                    ],
                    "dbFrom": "pubmed",
                    "webEnv": null,
                    "maxLinks": 3,
                    "provider": "pubmed"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/post": {
      "get": {
        "operationId": "research_pubmed_post",
        "summary": "Post",
        "description": "epost stores a UID set on the history server and answers XML. The webEnv and queryKey it returns are what search, summary and fetch chain against for sets",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-post"
        },
        "parameters": [
          {
            "name": "id",
            "in": "query",
            "required": true,
            "description": "Comma-separated UIDs to store, max 5000 per call",
            "schema": {
              "type": "string",
              "example": "33301246,32109013"
            }
          },
          {
            "name": "db",
            "in": "query",
            "required": false,
            "description": "Entrez database. Default pubmed",
            "schema": {
              "type": "string",
              "enum": [
                "pubmed",
                "protein",
                "nuccore",
                "ipg",
                "nucleotide",
                "structure",
                "genome",
                "grasp",
                "annotinfo",
                "assembly",
                "bioproject",
                "biosample",
                "blastdbinfo",
                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
                "protfam",
                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "webEnv",
            "in": "query",
            "required": false,
            "description": "Append to an existing history session",
            "schema": {
              "type": "string",
              "example": "MCID_6a93083700b9b9ef110c4022"
            }
          }
        ],
        "responses": {
          "200": {
            "description": "Success",
            "content": {
              "application/json": {
                "schema": {
                  "$ref": "#/components/schemas/Envelope"
                },
                "example": {
                  "status": "success",
                  "message": "Success",
                  "content": {
                    "db": "pubmed",
                    "ids": [
                      "33301246",
                      "32109013"
                    ],
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                    "provider": "pubmed",
                    "queryKey": "1",
                    "invalidIds": []
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                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
          },
          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
    "/v1/research:pubmed/search": {
      "get": {
        "operationId": "research_pubmed_search",
        "summary": "Search",
        "description": "esearch: term -> UID list. The 10,000-record window is upstream's, not ours; past it the history server (usehistory + epost) is the only way through.",
        "tags": [
          "PubMed"
        ],
        "externalDocs": {
          "url": "https://zapi.ink/api/research/pubmed#reference-search"
        },
        "parameters": [
          {
            "name": "term",
            "in": "query",
            "required": true,
            "description": "Entrez query. Supports field tags such as [au], [ti], [mesh] and boolean operators",
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          },
          {
            "name": "db",
            "in": "query",
            "required": false,
            "description": "Entrez database. Default pubmed",
            "schema": {
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              "enum": [
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                "structure",
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                "books",
                "cdd",
                "clinvar",
                "dbvar",
                "gene",
                "gds",
                "geoprofiles",
                "medgen",
                "mesh",
                "nlmcatalog",
                "omim",
                "orgtrack",
                "pmc",
                "proteinclusters",
                "pcassay",
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                "pccompound",
                "pcsubstance",
                "seqannot",
                "snp",
                "sra",
                "taxonomy",
                "biocollections",
                "gtr"
              ],
              "example": "pubmed"
            }
          },
          {
            "name": "page",
            "in": "query",
            "required": false,
            "description": "Page number. Default 1",
            "schema": {
              "type": "number",
              "example": "1"
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          },
          {
            "name": "limit",
            "in": "query",
            "required": false,
            "description": "UIDs per page. Default 20, max 500",
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          },
          {
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            "in": "query",
            "required": false,
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              "enum": [
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                "pubDate",
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                "journalName",
                "mostRecent"
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              "example": "relevance"
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          },
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            "in": "query",
            "required": false,
            "description": "Limit the whole term to one search field",
            "schema": {
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              "example": "title"
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          },
          {
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            "in": "query",
            "required": false,
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            "schema": {
              "type": "string",
              "enum": [
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              "example": "pdat"
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          },
          {
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            "required": false,
            "description": "Range start, YYYY/MM/DD",
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              "type": "string",
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            "required": false,
            "description": "Range end, YYYY/MM/DD",
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              "example": "2021/12/31"
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            "in": "query",
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            "description": "Limit to the last N days instead of a range",
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              "example": "30"
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          },
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            "description": "Store the result set on the history server and return webEnv/queryKey",
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              "type": "string",
              "enum": [
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              "example": "true"
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                "example": {
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                    "warnings": [
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                    "translations": [],
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          "4XX": {
            "$ref": "#/components/responses/Error"
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          "default": {
            "$ref": "#/components/responses/Error"
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        "summary": "Spell",
        "description": "espell is XML-only: retmode=json answers HTTP 500 with a zero-byte body, so the response is parsed by regex rather than asked for in another format.",
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          "PubMed"
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            "in": "query",
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              "example": "pubmed"
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                "snp",
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                "biocollections",
                "gtr"
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              "example": "pubmed"
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          },
          {
            "name": "version",
            "in": "query",
            "required": false,
            "description": "Summary schema version. Default 2.0",
            "schema": {
              "type": "string",
              "enum": [
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                "2.0"
              ],
              "example": "2.0"
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          }
        ],
        "responses": {
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            "description": "Success",
            "content": {
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                "example": {
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                    "db": "pubmed",
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                        "essn": "1533-4406",
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                        "title": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.",
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                          {
                            "name": "Lockhart S",
                            "authType": "Author",
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                          {
                            "name": "Perez JL",
                            "authType": "Author",
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                          },
                          {
                            "name": "Pérez Marc G",
                            "authType": "Author",
                            "clusterId": ""
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                        ],
                        "chapter": "",
                        "docDate": "",
                        "docType": "citation",
                        "edition": "",
                        "history": [
                          {
                            "date": "2020/12/11 06:00",
                            "pubStatus": "pubmed"
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                            "date": "2021/01/13 06:00",
                            "pubStatus": "medline"
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                            "date": "2020/12/10 12:20",
                            "pubStatus": "entrez"
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                            "date": "2020/12/17 00:00",
                            "pubStatus": "pmc-release"
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                        ],
                        "pubDate": "2020 Dec 31",
                        "srcDate": "",
                        "bookName": "",
                        "ePubDate": "2020 Dec 10",
                        "pubTypes": [
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                          "Journal Article",
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                        ],
                        "bookTitle": "",
                        "languages": [
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                          },
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                            "value": "pmc-id: PMC7745181;",
                            "idType": "pmcid",
                            "idTypeNum": 5
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                          {
                            "value": "10.1056/NEJMoa2034577",
                            "idType": "doi",
                            "idTypeNum": 3
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                        ],
                        "attributes": [
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                        "lastAuthor": "Gruber WC",
                        "references": [
                          {
                            "note": "",
                            "pmid": 33301245,
                            "refType": "Comment in",
                            "refSource": "N Engl J Med. 2020 Dec 31;383(27):2677-2678. doi: 10.1056/NEJMe2034717."
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                          {
                            "note": "",
                            "pmid": 33311629,
                            "refType": "Comment in",
                            "refSource": "Nature. 2020 Dec;588(7838):377-378. doi: 10.1038/d41586-020-03542-4."
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                            "note": "",
                            "pmid": 33478841,
                            "refType": "Comment in",
                            "refSource": "Semergen. 2021 Jan-Feb;47(1):1-3. doi: 10.1016/j.semerg.2020.12.005."
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                            "pmid": 33480519,
                            "refType": "Comment in",
                            "refSource": "Panminerva Med. 2022 Mar;64(1):131-132. doi: 10.23736/S0031-0808.21.04286-5."
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                          {
                            "note": "",
                            "pmid": 33524290,
                            "refType": "Comment in",
                            "refSource": "Ann Intern Med. 2021 Feb;174(2):JC15. doi: 10.7326/ACPJ202102160-015."
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                          {
                            "note": "",
                            "pmid": 33527275,
                            "refType": "Comment in",
                            "refSource": "MMW Fortschr Med. 2021 Feb;163(2):24-25. doi: 10.1007/s15006-021-9577-4."
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                            "note": "",
                            "pmid": 33596348,
                            "refType": "Comment in",
                            "refSource": "N Engl J Med. 2021 Apr 22;384(16):1576-1577. doi: 10.1056/NEJMc2036242."
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                            "name": "He JX",
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                          {
                            "name": "Shan H",
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                        "docType": "citation",
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                            "date": "2020/02/29 06:00",
                            "pubStatus": "entrez"
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                        "bookTitle": "",
                        "languages": [
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                          {
                            "value": "10.1056/NEJMoa2002032",
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                        "lastAuthor": "Zhong NS",
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                            "note": "",
                            "pmid": 32220202,
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                            "refSource": "Travel Med Infect Dis. 2020 May - Jun;35:101620. doi: 10.1016/j.tmaid.2020.101620."
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                            "note": "",
                            "pmid": 32234504,
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                            "refSource": "Diabetes Res Clin Pract. 2020 Apr;162:108132. doi: 10.1016/j.diabres.2020.108132."
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                            "pmid": 32276773,
                            "refType": "Comment in",
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                          {
                            "note": "",
                            "pmid": 32279480,
                            "refType": "Comment in",
                            "refSource": "Singapore Med J. 2020 Sep;61(9):460-462. doi: 10.11622/smedj.2020051."
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                      }
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                    "provider": "pubmed"
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          "4XX": {
            "$ref": "#/components/responses/Error"
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            "$ref": "#/components/responses/Error"
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        }
      }
    },
    "/v1/research:pubmed/trials-detail/{nctId}": {
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        "operationId": "research_pubmed_trials_detail",
        "summary": "Trials Detail",
        "description": "One ClinicalTrials.gov v2 study. The single-study record carries 140 scalar paths across four sections; the heavy repeated blocks (arms, outcomes, locations) are",
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                    "keywords": [
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                      "COVID-19",
                      "Efficacy",
                      "Multicenter",
                      "novel coronavirus",
                      "Safety",
                      "ACTT"
                    ],
                    "provider": "pubmed",
                    "armGroups": [
                      {
                        "type": "PLACEBO_COMPARATOR",
                        "label": "Placebo",
                        "description": "200 mg of Remdesivir placebo administered intravenously on Day 1, followed by a 100 mg once-daily maintenance dose of Remdesivir placebo while hospitalized for up to a 10 days total course. n=286.",
                        "interventionNames": [
                          "Other: Placebo"
                        ]
                      },
                      {
                        "type": "EXPERIMENTAL",
                        "label": "Remdesivir",
                        "description": "200 mg of Remdesivir administered intravenously on Day 1, followed by a 100 mg once-daily maintenance dose of Remdesivir while hospitalized for up to a 10 days total course. n=286.",
                        "interventionNames": [
                          "Drug: Remdesivir"
                        ]
                      }
                    ],
                    "locations": [
                      {
                        "zip": "35233",
                        "city": "Birmingham",
                        "state": "Alabama",
                        "status": null,
                        "country": "United States",
                        "facility": "University of Alabama at Birmingham School of Medicine - Infectious Disease",
                        "latitude": 33.52066,
                        "longitude": -86.80249
                      },
                      {
                        "zip": "29037",
                        "city": "La Jolla",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "University of California San Diego Health - Jacobs Medical Center",
                        "latitude": 32.84727,
                        "longitude": -117.2742
                      },
                      {
                        "zip": "90095",
                        "city": "Los Angeles",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "University of California Los Angeles Medical Center - Westwood Clinic",
                        "latitude": 34.05223,
                        "longitude": -118.24368
                      },
                      {
                        "zip": "92868-3298",
                        "city": "Orange",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "University of California Irvine Medical Center - Infectious Disease",
                        "latitude": 33.78779,
                        "longitude": -117.85311
                      },
                      {
                        "zip": "94304-1207",
                        "city": "Palo Alto",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "VA Palo Alto Health Care System - Infectious Diseases",
                        "latitude": 37.44188,
                        "longitude": -122.14302
                      },
                      {
                        "zip": "95817-1460",
                        "city": "Sacramento",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "University of California Davis Medical Center - Internal Medicine - Infectious Disease",
                        "latitude": 38.58157,
                        "longitude": -121.4944
                      },
                      {
                        "zip": "92314",
                        "city": "San Diego",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "Naval Medical Center San Diego - Infectious Disease Clinic",
                        "latitude": 32.71571,
                        "longitude": -117.16472
                      },
                      {
                        "zip": "94110-2859",
                        "city": "San Francisco",
                        "state": "California",
                        "status": null,
                        "country": "United States",
                        "facility": "University of California San Francisco - Zuckerberg San Francisco General Hospital - Division of Human Immunodeficiency Virus, Infectious Disease, and Global Medicine",
                        "latitude": 37.77493,
                        "longitude": -122.41942
                      }
                    ],
                    "startDate": "2020-02-21",
                    "studyType": "INTERVENTIONAL",
                    "whoMasked": [
                      "PARTICIPANT",
                      "INVESTIGATOR"
                    ],
                    "allocation": "RANDOMIZED",
                    "briefTitle": "Adaptive COVID-19 Treatment Trial (ACTT)",
                    "conditions": [
                      "COVID-19"
                    ],
                    "enrollment": 1062,
                    "hasResults": true,
                    "ipdSharing": null,
                    "maximumAge": "99 Years",
                    "minimumAge": "18 Years",
                    "orgStudyId": "20-0006",
                    "references": [
                      {
                        "pmid": "38657001",
                        "type": "DERIVED",
                        "citation": "Singh K, Rubenstein K, Callier V, Shaw-Saliba K, Rupert A, Dewar R, Laverdure S, Highbarger H, Lallemand P, Huang ML, Jerome KR, Sampoleo R, Mills MG, Greninger AL, Juneja K, Porter D, Benson CA, Dempsey W, El Sahly HM, Focht C, Jilg N, Paules CI, Rapaka RR, Uyeki TM, Clifford Lane H, Beigel J, Dodd LE; Adaptive COVID-19 Treatment Trial (ACTT-1) Study Group Members. SARS-CoV-2 RNA and Nucleocapsid Antigen Are Blood Biomarkers Associated With Severe Disease Outcomes That Improve in Response to Remdesivir. J Infect Dis. 2024 Sep 23;230(3):624-634. doi: 10.1093/infdis/jiae198."
                      },
                      {
                        "pmid": "38618926",
                        "type": "DERIVED",
                        "citation": "Lin DY, Wang J, Gu Y, Zeng D. Evaluating treatment efficacy in hospitalized COVID-19 patients, with applications to Adaptive COVID-19 Treatment Trials. Clin Trials. 2024 Aug;21(4):500-506. doi: 10.1177/17407745241238443. Epub 2024 Apr 15."
                      },
                      {
                        "pmid": "37466213",
                        "type": "DERIVED",
                        "citation": "Hedskog C, Rodriguez L, Roychoudhury P, Huang ML, Jerome KR, Hao L, Ireton RC, Li J, Perry JK, Han D, Camus G, Greninger AL, Gale M Jr, Porter DP. Viral Resistance Analyses From the Remdesivir Phase 3 Adaptive COVID-19 Treatment Trial-1 (ACTT-1). J Infect Dis. 2023 Nov 2;228(9):1263-1273. doi: 10.1093/infdis/jiad270."
                      },
                      {
                        "pmid": "36695483",
                        "type": "DERIVED",
                        "citation": "Grundeis F, Ansems K, Dahms K, Thieme V, Metzendorf MI, Skoetz N, Benstoem C, Mikolajewska A, Griesel M, Fichtner F, Stegemann M. Remdesivir for the treatment of COVID-19. Cochrane Database Syst Rev. 2023 Jan 25;1(1):CD014962. doi: 10.1002/14651858.CD014962.pub2."
                      },
                      {
                        "pmid": "36442063",
                        "type": "DERIVED",
                        "citation": "Potter GE, Bonnett T, Rubenstein K, Lindholm DA, Rapaka RR, Doernberg SB, Lye DC, Mularski RA, Hynes NA, Kline S, Paules CI, Wolfe CR, Frank MG, Rouphael NG, Deye GA, Sweeney DA, Colombo RE, Davey RT Jr, Mehta AK, Whitaker JA, Castro JG, Amin AN, Colombo CJ, Levine CB, Jain MK, Maves RC, Marconi VC, Grossberg R, Hozayen S, Burgess TH, Atmar RL, Ganesan A, Gomez CA, Benson CA, Lopez de Castilla D, Ahuja N, George SL, Nayak SU, Cohen SH, Lalani T, Short WR, Erdmann N, Tomashek KM, Tebas P. Temporal Improvements in COVID-19 Outcomes for Hospitalized Adults: A Post Hoc Observational Study of Remdesivir Group Participants in the Adaptive COVID-19 Treatment Trial. Ann Intern Med. 2022 Dec;175(12):1716-1727. doi: 10.7326/M22-2116. Epub 2022 Nov 29."
                      },
                      {
                        "pmid": "34473343",
                        "type": "DERIVED",
                        "citation": "Kreuzberger N, Hirsch C, Chai KL, Tomlinson E, Khosravi Z, Popp M, Neidhardt M, Piechotta V, Salomon S, Valk SJ, Monsef I, Schmaderer C, Wood EM, So-Osman C, Roberts DJ, McQuilten Z, Estcourt LJ, Skoetz N. SARS-CoV-2-neutralising monoclonal antibodies for treatment of COVID-19. Cochrane Database Syst Rev. 2021 Sep 2;9(9):CD013825. doi: 10.1002/14651858.CD013825.pub2."
                      },
                      {
                        "pmid": "34350582",
                        "type": "DERIVED",
                        "citation": "Ansems K, Grundeis F, Dahms K, Mikolajewska A, Thieme V, Piechotta V, Metzendorf MI, Stegemann M, Benstoem C, Fichtner F. Remdesivir for the treatment of COVID-19. Cochrane Database Syst Rev. 2021 Aug 5;8(8):CD014962. doi: 10.1002/14651858.CD014962."
                      },
                      {
                        "pmid": "33240091",
                        "type": "DERIVED",
                        "citation": "Sultana J, Crisafulli S, Gabbay F, Lynn E, Shakir S, Trifiro G. Challenges for Drug Repurposing in the COVID-19 Pandemic Era. Front Pharmacol. 2020 Nov 6;11:588654. doi: 10.3389/fphar.2020.588654. eCollection 2020."
                      }
                    ],
                    "whyStopped": null,
                    "leadSponsor": "National Institute of Allergy and Infectious Diseases (NIAID)",
                    "briefSummary": "This study is an adaptive, randomized, double-blind, placebo-controlled trial to evaluate the safety and efficacy of novel therapeutic agents in hospitalized adults diagnosed with COVID-19. The study is a multicenter trial that will be conducted in up to approximately 100 sites globally. The study will compare different investigational therapeutic agents to a control arm. There will be interim monitoring to introduce new arms and allow early stopping for futility, efficacy, or safety. If one therapy proves to be efficacious, then this treatment may become the control arm for comparison(s) with new experimental treatment(s). Any such change would be accompanied by an updated sample size. Because background standards of supportive care may evolve/improve over time as more is learned about successful management of COVID-19, comparisons of safety and efficacy will be based on data from concurrently randomized subjects. An independent Data and Safety Monitoring Board (DSMB) will actively monitor interim data to make recommendations about early study closure or changes to study arms. To evaluate the clinical efficacy, as assessed by time to recovery, of different investigational therapeutics as compared to the control arm.",
                    "organization": "National Institute of Allergy and Infectious Diseases (NIAID)",
                    "secondaryIds": [],
                    "standardAges": [
                      "ADULT",
                      "OLDER_ADULT"
                    ],
                    "collaborators": [],
                    "firstPostedOn": "2020-02-21",
                    "interventions": [
                      {
                        "name": "Placebo",
                        "type": "OTHER",
                        "description": "The supplied placebo lyophilized formulation is identical in physical appearance to the active lyophilized formulation and contains the same inactive ingredients. Alternatively, a placebo of normal saline of equal volume may be given if there are limitations on matching placebo supplies.",
                        "armGroupLabels": [
                          "Placebo"
                        ]
                      },
                      {
                        "name": "Remdesivir",
                        "type": "DRUG",
                        "description": "Drug Remdesivir is a single diastereomer monophosphoramidate prodrug designed for the intracellular delivery of a modified adenine nucleoside analog GS-441524. In addition to the active ingredient, the lyophilized formulation of Remdesivir contains the following inactive ingredients: water for injection, sulfobutylether beta-cyclodextrin sodium (SBECD), and hydrochloric acid and/or sodium hydroxide.",
                        "armGroupLabels": [
                          "Remdesivir"
                        ]
                      }
                    ],
                    "lastUpdatedOn": "2022-03-14",
                    "locationCount": 60,
                    "officialTitle": "A Multicenter, Adaptive, Randomized Blinded Controlled Trial of the Safety and Efficacy of Investigational Therapeutics for the Treatment of COVID-19 in Hospitalized Adults",
                    "otherOutcomes": [],
                    "completionDate": "2020-05-21",
                    "enrollmentType": "ACTUAL",
                    "meshConditions": [
                      {
                        "id": "D000086382",
                        "term": "COVID-19"
                      }
                    ],
                    "primaryPurpose": "TREATMENT",
                    "oversightHasDmc": null,
                    "primaryOutcomes": [
                      {
                        "measure": "Time to Recovery",
                        "timeFrame": "Day 1 through Day 29",
                        "description": "Day of recovery is defined as the first day on which the subject satisfies one of the following three categories from the ordinal scale: 1) Hospitalized, not requiring supplemental oxygen - no longer requires ongoing medical care; 2) Not hospitalized, limitation on activities and/or requiring home oxygen; 3) Not hospitalized, no limitations on activities."
                      },
                      {
                        "measure": "Time to Recovery by Race",
                        "timeFrame": "Day 1 through Day 29",
                        "description": "Day of recovery is defined as the first day on which the subject satisfies one of the following three categories from the ordinal scale: 1) Hospitalized, not requiring supplemental oxygen - no longer requires ongoing medical care; 2) Not hospitalized, limitation on activities and/or requiring home oxygen; 3) Not hospitalized, no limitations on activities."
                      },
                      {
                        "measure": "Time to Recovery by Ethnicity",
                        "timeFrame": "Day 1 through Day 29",
                        "description": "Day of recovery is defined as the first day on which the subject satisfies one of the following three categories from the ordinal scale: 1) Hospitalized, not requiring supplemental oxygen - no longer requires ongoing medical care; 2) Not hospitalized, limitation on activities and/or requiring home oxygen; 3) Not hospitalized, no limitations on activities."
                      },
                      {
                        "measure": "Time to Recovery by Sex",
                        "timeFrame": "Day 1 through Day 29",
                        "description": "Day of recovery is defined as the first day on which the subject satisfies one of the following three categories from the ordinal scale: 1) Hospitalized, not requiring supplemental oxygen - no longer requires ongoing medical care; 2) Not hospitalized, limitation on activities and/or requiring home oxygen; 3) Not hospitalized, no limitations on activities."
                      }
                    ],
                    "leadSponsorClass": "NIH",
                    "responsibleParty": "SPONSOR",
                    "statusVerifiedOn": "2020-04",
                    "healthyVolunteers": false,
                    "interventionModel": "PARALLEL",
                    "meshInterventions": [
                      {
                        "id": "C000606551",
                        "term": "remdesivir"
                      }
                    ],
                    "organizationClass": "NIH",
                    "secondaryOutcomes": [
                      {
                        "measure": "Change From Baseline in Alanine Transaminase (ALT)",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate ALT was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Aspartate Transaminase (AST)",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate AST was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Creatinine",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate serum creatinine was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Glucose",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate serum glucose was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Hemoglobin",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate hemoglobin was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Platelets",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate platelets was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Prothrombin Time (PT)",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate PT was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      },
                      {
                        "measure": "Change From Baseline in Total Bilirubin",
                        "timeFrame": "Days 1, 3, 5, 8, 11, 15 and 29",
                        "description": "Blood to evaluate total bilirubin was collected at Days 1, 3, 5, 8, and 11 while participants were inpatient, and at Days 15 and 29, with the Day 1 assessment serving as baseline. Participants who had been discharged had blood collected if infection control measures allowed for in-person visits after discharge."
                      }
                    ],
                    "isFdaRegulatedDrug": true,
                    "detailedDescription": "This study is an adaptive, randomized, double-blind, placebo-controlled trial to evaluate the safety and efficacy of novel therapeutic agents in hospitalized adults diagnosed with COVID-19. The study is a multicenter trial that will be conducted in up to approximately 100 sites globally. The study will compare different investigational therapeutic agents to a control arm. There will be interim monitoring to introduce new arms and allow early stopping for futility, efficacy, or safety. If one therapy proves to be efficacious, then this treatment may become the control arm for comparison(s) with new experimental treatment(s). Any such change would be accompanied by an updated sample size. Because background standards of supportive care may evolve/improve over time as more is learned about successful management of COVID-19, comparisons of safety and efficacy will be based on data from concurrently randomized subjects. An independent Data and Safety Monitoring Board (DSMB) will actively monitor interim data to make recommendations about early study closure or changes to study arms.\n\nThe initial sample size is projected to be 572 subjects to achieve 400 subjects with a \"recovered\" status (per the primary objective). The primary analysis will be based on those subjects enrolled in order to 400 recoveries. An additional analysis of the moderate severity subgroup (those with baseline status of \"Hospitalized, requiring supplemental oxygen\" or \"Hospitalized, not requiring supplemental oxygen - requiring ongoing medical care\") is also of public health importance. Hence, enrollment will be permitted until the date of April 20, 2020 to ensure 400 recoveries and provide additional data about this important subgroup. With recent enrollment rates, the total sample size may be 600 to over 800.\n\nSubjects will be assessed daily while hospitalized. If the subjects are discharged from the hospital, they will have a study visit at Days 15, 22, and 29 as an outpatient. For discharged subjects, it is preferred that the Day 15 and 29 visits are in person to obtain safety laboratory tests and OP swab and blood (serum only) samples for secondary research as well as clinical outcome data. However, infection control or other restrictions may limit the ability of the subject to return to the clinic. In this case, Day 15 and 29 visits may be conducted by phone, and only clinical data will be obtained. The Day 22 visit does not have laboratory tests or collection of samples and may also be conducted by phone.\n\nAll subjects will undergo a series of efficacy, safety, and laboratory assessments. Safety laboratory tests and blood (serum and plasma) research samples and oropharyngeal (OP) swabs will be obtained on Days 1 (prior to infusion) and Days 3, 5, 8, and 11 (while hospitalized). OP swabs and blood (serum only) plus safety laboratory tests will be collected on Day 15 and 29 (if the subject attends an in-person visit or are still hospitalized).\n\nThe primary outcome is time to recovery by Day 29. A key secondary outcome evaluates treatment-related improvements in the 8-point ordinal scale at Day 15. As little is known about the clinical course of COVID-19, a pilot study will be used for a blinded sample size reassessment.\n\nContacts:\n\n20-0006 Central Contact\n\nTelephone: 1 (301) 7617948\n\nEmail: DMIDClinicalTrials@niaid.nih.gov",
                    "eligibilityCriteria": "Inclusion Criteria:\n\n1. Admitted to a hospital with symptoms suggestive of COVID-19 infection.\n2. Subject (or legally authorized representative) provides informed consent prior to initiation of any study procedures.\n3. Subject (or legally authorized representative) understands and agrees to comply with planned study procedures.\n4. Male or non-pregnant female adult \\> / = 18 years of age at time of enrollment.\n5. Has laboratory-confirmed SARS-CoV-2 infection as determined by polymerase chain reaction (PCR) or other commercial or public health assay in any specimen, as documented by either or the following:\n\n   1. PCR positive in sample collected \\< 72 hours prior to randomization; OR\n\n      Exclusion Criteria:\n   2. PCR positive in sample collected \\>/= 72 hours prior to randomization, documented inability to obtain a repeat sample (e.g. due to lack of testing supplies, limited testing capacity, results taking \\>24 hours, etc.) AND progressive disease suggestive of ongoing SARS-CoV-2 infection.\n6. Illness of any duration, and at least one of the following:\n\n   1. Radiographic infiltrates by imaging (chest x-ray, CT scan, etc.), OR\n   2. SpO2 \\< / = 94% on room air, OR\n   3. Requiring supplemental oxygen, OR\n   4. Requiring mechanical ventilation.\n7. Women of childbearing potential must agree to either abstinence or use at least one primary form of contraception not including hormonal contraception from the time of screening through Day 29.\n8. Agrees to not participate in another clinical trial for the treatment of COVID-19 or SARS-CoV-2 through Day 29.\n\nExclusion Criteria:\n\n1. Alanine Transaminase (ALT) or Aspartate Transaminase (AST) \\> 5 times the upper limit of normal.\n2. Estimated glomerular filtration rate (eGFR) \\< 30 ml/min (including patients receiving hemodialysis or hemofiltration).\n3. Pregnancy or breast feeding.\n4. Anticipated discharge from the hospital or transfer to another hospital which is not a study site within 72 hours.\n5. Allergy to any study medication.",
                    "isFdaRegulatedDevice": false,
                    "resultsFirstPostedOn": "2020-09-25",
                    "primaryCompletionDate": "2020-05-21"
                  }
                }
              }
            }
          },
          "4XX": {
            "$ref": "#/components/responses/Error"
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          "default": {
            "$ref": "#/components/responses/Error"
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    "/v1/research:pubmed/trials-search": {
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        "operationId": "research_pubmed_trials_search",
        "summary": "Trials Search",
        "description": "ClinicalTrials.gov v2 study search. v2 paginates by an opaque token, not a page number, so the cursor is passed through instead of being faked into a page index.",
        "tags": [
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            "required": false,
            "description": "Condition or disease being studied",
            "schema": {
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            "description": "Free-text terms matched across the whole record",
            "schema": {
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              "example": "remdesivir"
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            "in": "query",
            "required": false,
            "description": "Restrict to one recruitment status",
            "schema": {
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                "TEMPORARILY_NOT_AVAILABLE",
                "APPROVED_FOR_MARKETING",
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            "in": "query",
            "required": false,
            "description": "Studies per page. Default 20, max 100",
            "schema": {
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            "in": "query",
            "required": false,
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            "schema": {
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              "example": "ZVt07cGHkvI2wRk2CJf6"
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          "200": {
            "description": "Success",
            "content": {
              "application/json": {
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                  "message": "Success",
                  "content": {
                    "term": null,
                    "count": 3,
                    "items": [
                      {
                        "nctId": "NCT01128829",
                        "phases": [
                          "NA"
                        ],
                        "status": "COMPLETED",
                        "acronym": "SIR",
                        "masking": "NONE",
                        "keywords": [
                          "obesity",
                          "diabetes",
                          "artificial sweeteners"
                        ],
                        "startDate": "2010-05",
                        "studyType": "INTERVENTIONAL",
                        "allocation": "RANDOMIZED",
                        "briefTitle": "Sugar-replacement Sweeteners, and Blood Sugar Control",
                        "conditions": [
                          "Obesity"
                        ],
                        "enrollment": 17,
                        "hasResults": true,
                        "leadSponsor": "Washington University School of Medicine",
                        "briefSummary": "Several sugar-replacement sweeteners are currently on the market, including saccharine (ex. Sweet'N Low), aspartame (ex. Equal), and sucralose (ex. Splenda). The purpose of this study is to examine wether non caloric sweeteners affects how well the body works to control blood sugar. The study includes detailed blood sugar testing after drinking liquids that may contain sucralose. The investigators hypothesize that drinking liquids with sucralose will effect the amounts of specific appetite-affecting substances naturally produced by the body.",
                        "organization": "Washington University School of Medicine",
                        "firstPostedOn": "2010-05-24",
                        "lastUpdatedOn": "2014-12-22",
                        "officialTitle": "Regulation of Incretin Release by Non-nutritive Sweeteners in Humans",
                        "completionDate": "2012-10",
                        "enrollmentType": "ACTUAL",
                        "primaryPurpose": "BASIC_SCIENCE",
                        "leadSponsorClass": "OTHER",
                        "statusVerifiedOn": "2014-12",
                        "interventionModel": "CROSSOVER",
                        "primaryCompletionDate": "2012-02"
                      },
                      {
                        "nctId": "NCT06186102",
                        "phases": [
                          "PHASE2"
                        ],
                        "status": "COMPLETED",
                        "acronym": "PolyCAD",
                        "masking": "QUADRUPLE",
                        "keywords": [
                          "Spermidine",
                          "Dietary supplement",
                          "Polyamine",
                          "Prevention",
                          "Treatment",
                          "Lifestyle",
                          "Coronary artery disease",
                          "Ischemic heart disease"
                        ],
                        "startDate": "2024-01-01",
                        "studyType": "INTERVENTIONAL",
                        "allocation": "RANDOMIZED",
                        "briefTitle": "Polyamine Treatment in Elderly Patients With Coronary Artery Disease",
                        "conditions": [
                          "Ischemic Heart Disease",
                          "Myocardial Infarction",
                          "Cardiovascular Diseases",
                          "Hypertensive Heart Disease",
                          "Hypertension",
                          "Diastolic Dysfunction",
                          "Obesity",
                          "Metabolic Syndrome"
                        ],
                        "enrollment": 187,
                        "hasResults": false,
                        "leadSponsor": "University of Aarhus",
                        "briefSummary": "The present study is testing spermidine treatment in elderly patients with coronary artery disease. The study is a randomized, double-blind, placebo-controlled, two-armed, parallel-group, single centre, clinical study.",
                        "organization": "University of Aarhus",
                        "collaborators": [
                          "Sygesikringen Danmark",
                          "Aarhus University Hospital",
                          "Danish Diabetes Academy",
                          "Danish Cardiovascular Academy (DCA)",
                          "Eva and Henry Frænkels Mindefond",
                          "DoNotAge.org"
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                        "firstPostedOn": "2023-12-29",
                        "lastUpdatedOn": "2026-07-01",
                        "officialTitle": "Polyamine Treatment in Elderly Patients With Coronary Artery Disease - a Randomized Controlled Trial",
                        "completionDate": "2026-06-29",
                        "enrollmentType": "ACTUAL",
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                        "leadSponsorClass": "OTHER",
                        "statusVerifiedOn": "2026-04",
                        "interventionModel": "PARALLEL",
                        "primaryCompletionDate": "2026-06-29"
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                        "phases": [
                          "NA"
                        ],
                        "status": "COMPLETED",
                        "acronym": "PLIS",
                        "masking": "NONE",
                        "keywords": [
                          "diabetes mellitus type 2",
                          "impaired glucose tolerance",
                          "lifestyle intervention",
                          "body fat distribution",
                          "prevention"
                        ],
                        "startDate": "2012-03",
                        "studyType": "INTERVENTIONAL",
                        "allocation": "RANDOMIZED",
                        "briefTitle": "Individualized Lifestyle Intervention in Subjects With Prediabetes",
                        "conditions": [
                          "Diabetes Mellitus Type 2"
                        ],
                        "enrollment": 1145,
                        "hasResults": false,
                        "leadSponsor": "University Hospital Tuebingen",
                        "briefSummary": "The purpose of this prospective randomized multicenter intervention study is to determine whether in the prevention of Diabetes an intensified lifestyle intervention is superior to a conventional lifestyle intervention in high risk non-Responder subjects. Further, the intensive phenotyping to determine subgroups with an increased risk for diabetes enables an individualized prevention and therapy of type 2 diabetes mellitus.",
                        "organization": "University Hospital Tuebingen",
                        "collaborators": [
                          "German Diabetes-Center, Leibniz-Institut in Düsseldorf",
                          "Endocrinology and Metabolic Diseases, Charité Berlin",
                          "German Institute of Human Nutrition",
                          "University Hospital Carl Gustav Carus",
                          "LMU Klinikum",
                          "University Hospital Heidelberg"
                        ],
                        "firstPostedOn": "2013-09-20",
                        "lastUpdatedOn": "2017-08-23",
                        "officialTitle": "Prediabetes Lifestyle Intervention Study",
                        "completionDate": "2017-08",
                        "enrollmentType": "ACTUAL",
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                        "statusVerifiedOn": "2017-08",
                        "interventionModel": "PARALLEL",
                        "primaryCompletionDate": "2017-08"
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                    "limit": 3,
                    "total": 15144,
                    "cursor": null,
                    "status": "COMPLETED",
                    "hasMore": true,
                    "provider": "pubmed",
                    "condition": "diabetes",
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            "$ref": "#/components/responses/Error"
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    "/v1/research:sinta/affiliation-departments/{affiliationId}/{affiliationCode}": {
      "get": {
        "operationId": "research_sinta_affiliation_departments",
        "summary": "Affiliation Departments",
        "description": "SINTA — one institution's study programmes (/affiliations/departments/{id}/{code}). Live host is sinta.kemdiktisaintek.go.id after the 2024 ministry split; sinta.kemdikbud.go.id",
        "tags": [
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        "externalDocs": {
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        "parameters": [
          {
            "name": "affiliationId",
            "in": "path",
            "required": true,
            "description": "SINTA affiliation id, the `affiliationId` returned by the affiliations endpoint",
            "schema": {
              "type": "string",
              "example": "384"
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          },
          {
            "name": "affiliationCode",
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            "required": true,
            "description": "Institution code, the `code` returned by the affiliations endpoint. Resolved automatically when omitted",
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              "example": "001001"
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          },
          {
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            "required": false,
            "description": "Ranking order. Default score3yr",
            "schema": {
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                "scoreOverall",
                "alphabetical"
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              "example": "score3yr"
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                  "message": "Success",
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                      {
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                          {
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                          {
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                          {
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                            "authorId": "6091895"
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                            "name": "DWI LILIEK KUSINDARTA",
                            "authorId": "43975"
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                            "name": "RINI WIDAYANTI",
                            "authorId": "6024868"
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                        "departmentCode": "54261"
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                          {
                            "name": "FITRI HARYANTI",
                            "authorId": "6011533"
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                          {
                            "name": "ADI UTARINI",
                            "authorId": "6013867"
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                          {
                            "name": "MAE SRI HARTATI WAHYUNINGSIH",
                            "authorId": "6011535"
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                          {
                            "name": "AHMAD HAMIM SADEWA",
                            "authorId": "6004283"
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                        ],
                        "metrics": {
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                        "departmentCode": "11001"
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                      {
                        "url": "https://sinta.kemdiktisaintek.go.id/departments/profile/384/001001/12201",
                        "name": "Kedokteran Gigi",
                        "level": "S1",
                        "authors": [
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                            "authorId": "5985910"
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                          {
                            "name": "REZMELIA SARI",
                            "authorId": "6156995"
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                          {
                            "name": "TETIANA HANIASTUTI",
                            "authorId": "6013845"
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                          {
                            "name": "HERIATI SITOSARI",
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                          {
                            "name": "SRI LARNANI",
                            "authorId": "6014294"
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                      {
                        "url": "https://sinta.kemdiktisaintek.go.id/departments/profile/384/001001/12001",
                        "name": "Doktor Ilmu Kedokteran Gigi",
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                            "authorId": "260243"
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                            "authorId": "6007906"
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                            "authorId": "42453"
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                          {
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                            "authorId": "6644352"
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                        "departmentCode": "12001"
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                        "url": "https://sinta.kemdiktisaintek.go.id/departments/profile/384/001001/11104",
                        "name": "Magister Ilmu Kedokteran Tropis",
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                          {
                            "name": "YANRI WIJAYANTI SUBRONTO",
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                            "name": "IDA SAFITRI LAKSANAWATI",
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                          {
                            "name": "TRI BASKORO TUNGGUL SATOTO",
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                          {
                            "name": "E. ELSA HERDIANA MURHANDARWATI",
                            "authorId": "6017251"
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                        },
                        "departmentCode": "11104"
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                      {
                        "url": "https://sinta.kemdiktisaintek.go.id/departments/profile/384/001001/12102",
                        "name": "Magister Ilmu Kedokteran Gigi Klinis",
                        "level": "S2",
                        "authors": [
                          {
                            "name": "ARCHADIAN NURYANTI",
                            "authorId": "6014472"
                          },
                          {
                            "name": "RETNO ARDHANI",
                            "authorId": "6008545"
                          },
                          {
                            "name": "DEWI AGUSTINA",
                            "authorId": "6013865"
                          },
                          {
                            "name": "SURYONO",
                            "authorId": "43213"
                          },
                          {
                            "name": "RYNA DWI YANUARYSKA",
                            "authorId": "5978096"
                          }
                        ],
                        "metrics": {
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                          "sintaScoreOverall": 10739
                        },
                        "departmentCode": "12102"
                      },
                      {
                        "url": "https://sinta.kemdiktisaintek.go.id/departments/profile/384/001001/11109",
                        "name": "Magister Ilmu Pendidikan Kedokteran dan Kesehatan",
                        "level": "S2",
                        "authors": [
                          {
                            "name": "MORA CLARAMITA",
                            "authorId": "6007248"
                          },
                          {
                            "name": "YOYO SUHOYO",
                            "authorId": "5985469"
                          },
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                            "name": "GANDES RETNO RAHAYU",
                            "authorId": "6036070"
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                          {
                            "name": "WIDYANDANA",
                            "authorId": "6013878"
                          },
                          {
                            "name": "RR TITI SAVITRI PRIHATININGSIH",
                            "authorId": "6007240"
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                        ],
                        "metrics": {
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                          "sintaScoreOverall": 10902
                        },
                        "departmentCode": "11109"
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                    ],
                    "limit": 10,
                    "query": "kedokteran",
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                    "hasMore": true,
                    "nextPage": 2,
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          },
          "4XX": {
            "$ref": "#/components/responses/Error"
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          "default": {
            "$ref": "#/components/responses/Error"
          }
        }
      }
    },
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        "operationId": "research_sinta_affiliation",
        "summary": "Affiliation",
        "description": "SINTA — one institution's profile (/affiliations/profile/{id}), with its indexed output. Live host is sinta.kemdiktisaintek.go.id after the 2024 ministry split; sinta.kemdikbud.go.id",
        "tags": [
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        ],
        "externalDocs": {
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        "parameters": [
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            "required": true,
            "description": "SINTA affiliation id, the `affiliationId` returned by the affiliations endpoint",
            "schema": {
              "type": "string",
              "example": "404"
            }
          },
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            "required": false,
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              "enum": [
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                "garuda",
                "googleScholar",
                "researches",
                "services",
                "iprs",
                "books"
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              "example": "scopus"
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          }
        ],
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                "example": {
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                        "year": 2027,
                        "title": "HABITAT TYPE EFFECTS ON INSECT POLLINATOR SPECIES RICHNESS AND ABUNDANCE IN JAMBI OIL PALM PLANTATIONS",
                        "authors": "Jihadi A.",
                        "quartile": "Q4 Journal",
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                        "citedByCount": 0,
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                        "publicationName": "Indian Journal of Entomology"
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                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105042998323&origin=resultslist",
                        "year": 2027,
                        "title": "Occupational Mismatch and Income Effects in Indonesia’s Gig Economy: A Gender Perspective",
                        "authors": "Setyanti A.M.",
                        "quartile": "Q2 Journal",
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                        "publicationUrl": "https://www.scopus.com/sourceid/21100855500",
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                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105046260648&origin=resultslist",
                        "year": 2027,
                        "title": "Interpretability TabNet: Enhancing Tabular Deep Learning with Entmax Stability Masking",
                        "authors": "Yudistira N.",
                        "quartile": "Q3 Journal",
                        "authorOrder": null,
                        "citedByCount": 0,
                        "publicationUrl": "https://www.scopus.com/sourceid/25674",
                        "publicationName": "Lecture Notes in Computer Science"
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                      {
                        "doi": null,
                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105046356390&origin=resultslist",
                        "year": 2027,
                        "title": "Enhancing Stability and Convergence in Graph-Based Chess Reinforcement Learning Using Adaptive Optimization Strategies",
                        "authors": "Yudistira N.",
                        "quartile": "Q3 Journal",
                        "authorOrder": null,
                        "citedByCount": 0,
                        "publicationUrl": "https://www.scopus.com/sourceid/25674",
                        "publicationName": "Lecture Notes in Computer Science"
                      },
                      {
                        "doi": null,
                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105046181520&origin=resultslist",
                        "year": 2027,
                        "title": "Adaptive Conformal Prediction for Reliable and Explainable Medical Image Classification",
                        "authors": "Octadion O.",
                        "quartile": "Q3 Journal",
                        "authorOrder": null,
                        "citedByCount": 0,
                        "publicationUrl": "https://www.scopus.com/sourceid/25674",
                        "publicationName": "Lecture Notes in Computer Science"
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                      {
                        "doi": null,
                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105038287714&origin=resultslist",
                        "year": 2026,
                        "title": "Dynamic Behavior of Caputo Fractional-Order Model of Forest Biomass, Human Population, and Atmospheric Carbon Dioxide",
                        "authors": "Huda M.N.",
                        "quartile": "Q3 Journal",
                        "authorOrder": null,
                        "citedByCount": 1,
                        "publicationUrl": "https://www.scopus.com/sourceid/21101068591",
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                      {
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                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105042373527&origin=resultslist",
                        "year": 2026,
                        "title": "Euler Scheme for a Predator-Prey Model Incorporating Predator Cannibalism and Refuge",
                        "authors": "Rayungsari M.",
                        "quartile": "Q4 Journal",
                        "authorOrder": null,
                        "citedByCount": 0,
                        "publicationUrl": "https://www.scopus.com/sourceid/26916",
                        "publicationName": "Aip Conference Proceedings"
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                      {
                        "doi": null,
                        "url": "https://www.scopus.com/record/display.uri?eid=2-s2.0-105044206229&origin=resultslist",
                        "year": 2026,
                        "title": "NUMERICAL SIMULATIONS OF SOLITON PROPAGATION IN KERR NONLINEAR MEDIA WITH LINEAR REFRACTIVE INDEX VARIATION AND NONLINEAR DIFFRACTION",
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        "tags": [
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        "externalDocs": {
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              "example": "universitas"
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          },
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        "responses": {
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                },
                "example": {
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                  "message": "Success",
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                    "items": [
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