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Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry

2025-12-04

Abstract excerpt

MYT1L -Related Neurodevelopmental Disorder ( MYT1L -NDD) is a rare autosomal dominant syndrome characterized by intellectual disability, global developmental delay, autism, and obesity. Despite growing recognition, prospective and systematic clinical phenotyping remains limited. Here, we analyzed data from 20 individuals with MYT1L variants enrolled in the Brain Gene Registry (BGR), a national platform integrati...

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Literature Corpus work
376ba0fe-f9bf-57c5-8dfb-a310cd7978f3
DOI
10.64898/2025.12.01.25340510
Open publication

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