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 integrating genetic, neurobehavioral, and clinical data. Neurobehavioral assessments were…
