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Despite growing recognition, prospective and systematic clinical phenotyping remains limited. Here, we present an exploratory analysis of data from 25 individuals with\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD enrolled in the Brain Gene Registry (BGR), a national platform integrating genetic, neurobehavioral, and clinical data. Neurobehavioral assessments were conducted using the Rapid Neurobehavioral Assessment Protocol (RNAP), including virtual adaptations of the Shipley, Developmental Profile\u20104, ASEBA Child Behavior Checklist, and Vineland\u20103. Diagnostic and medication data were extracted from structured electronic health records (EHR).\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD participants were compared to the broader BGR cohort.\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD participants exhibited pronounced impairments in nonverbal cognition and adaptive functioning, particularly in motor tasks, communication, and daily living skills. Behavioral assessments revealed elevated rates of autism symptoms, ADHD symptoms, behavioral conduct problems, oppositional defiance, and anxiety. EHR diagnosis data were available for 10\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD participants. It showed frequent diagnoses of developmental delays, speech and language disorders, intellectual disability, gastrointestinal problems, and obesity. Medication data on five participants indicated common prescription of alpha\u20102 adrenergic agonists and laxatives. This study provides the first prospective, multi\u2010source characterization of\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD. Findings expand our understanding of\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD phenotypes in a quantitative and systematic manner and support the value of registry\u2010based approaches for understanding rare neurodevelopmental disorders. Larger, longitudinal, age\u2010stratified studies are needed to further define\n                    <jats:italic>MYT1L<\/jats:italic>\n                    \u2010NDD natural history and inform clinical care.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70321","type":"journal-article","created":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T08:26:07Z","timestamp":1792398367000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurobehavioral Profiles and Clinical Consequences of\n                    <i>MYT1L<\/i>\n                    \u2010Related Neurodevelopmental Disorder: Insights From the Brain Gene Registry"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4243-204X","authenticated-orcid":false,"given":"Jorge L.","family":"Granadillo","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3773-801X","authenticated-orcid":false,"given":"Levi","family":"Kaster","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Institute for Informatics, Data Science &amp; Biostatistics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3581-6646","authenticated-orcid":false,"given":"Virginia","family":"Lanzotti","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Department of Psychiatry Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daleep","family":"Grewal","sequence":"additional","affiliation":[{"name":"Institute for Informatics, Data Science &amp; Biostatistics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allyson","family":"Schreiber","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Division of Neonatal\u2010Perinatal Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Abbacchi","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Department of Genetics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina A.","family":"Gurnett","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5450-6694","authenticated-orcid":false,"given":"Kristen L.","family":"Kroll","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Department of Developmental Biology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-6020","authenticated-orcid":false,"given":"Dustin","family":"Baldridge","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Hazlett","sequence":"additional","affiliation":[{"name":"Department of Psychiatry University of North Carolina at Chapel Hill  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0376-4095","authenticated-orcid":false,"given":"Leann","family":"Dawalt","sequence":"additional","affiliation":[{"name":"Waisman Center University of Wisconsin\u2010Madison  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John N.","family":"Constantino","sequence":"additional","affiliation":[{"name":"Division of Behavioral and Mental Health Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Gupta","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Institute for Informatics, Data Science &amp; 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