HDAC4-related haploinsufficiency syndrome

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: brachydactyly intellectual disability syndrome, brachydactyly mental retardation syndrome, HDAC4-related haploinsufficiency syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with HDAC4-related haploinsufficiency syndrome itself.