HDAC4-related haploinsufficiency syndrome

Definition

A disorder caused by haploinsufficiency of HDAC4 and is characterized by brachydactyly type E, variable mild to moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Individuals with the gain of functions variants typically do not have brachydactyly and do have more consistent intellectual disability.

Also known as HDAC4-related haploinsufficiency syndrome — per MONDO