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However, the full phenotypic spectrum of SETD5 Disorder is not well characterized. We summarized clinical features of participants with SETD5 Disorder enrolled in the National Brain Gene Registry (BGR). We analyzed data from 13 individuals with a molecular diagnosis of SETD5 Disorder, ages 2\u201337\u2009years, using data from electronic health records, standardized surveys, and direct assessments. We also determined the number of participants for whom 10 pre\u2010selected clinical features were present based on ICD\u201010 billing codes in comparison to manual review of clinical documentation. In the cohort, there were 11 unique pathogenic\/likely pathogenic variants in 13 individuals from 11 different families. Of these 11 unique variants, 6 were nonsense, 4 were frameshift, and one was splice site. Participants in our cohort had features not previously reported, including brain and musculoskeletal abnormalities. One participant had cerebral palsy. For the 10 pre\u2010selected clinical features, we showed satisfactory representation of these features by ICD\u201010 billing codes. This report highlights novel genotype and phenotype associations with SETD5 Disorder. Examination of larger patient cohorts with SETD5 Disorder is needed to evaluate the true prevalence of these medical conditions in this disorder.<\/jats:p>","DOI":"10.1111\/cge.14746","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T07:39:36Z","timestamp":1745393976000},"page":"279-291","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expansion of the Genotypic and Phenotypic Spectrum of <scp>SETD5<\/scp> Disorder Using Data From the National Brain Gene Registry"],"prefix":"10.1111","volume":"108","author":[{"given":"Nora C.","family":"Callahan","sequence":"first","affiliation":[{"name":"Boston College  Chestnut Hill Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Mahida","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Sveden","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meg","family":"Quinn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chopra","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Brain Gene Registry Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.006"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.165"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593\u2010018\u20100266\u20102"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.141465"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13132"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22584"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jamia\/ocv202"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/amiajnl\u20102010\u2010000061"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2999"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.101035"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010024\u201009530\u20103"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(12)61480\u20109"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35559"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00631"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2017.09.004"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38461"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2024.11.008"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101758\u2010y"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2019.8059"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37832"},{"key":"e_1_2_9_24_1","first-page":"8","article-title":"A Report: The Definition and Classification of Cerebral Palsy April 2006","volume":"109","author":"Rosenbaum P.","year":"2007","journal-title":"Developmental Medicine and Child Neurology. 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