HDAC3-related neurodevelopmental disorder

Definition

A neurodevelopmental disorder caused by variation in the HDAC3 gene. This disorder is characterised by intellectual disability and neurodevelopmental delay. Phenotypes commonly reported include musculoskeletal abnormalities, abnormalities of the genitourinary system, and brain imaging abnormalities. Other phenotypes observed less frequently include microcephaly, hearing impairments, congenital heart disease, and autistic behavior.