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.
MONDO:0859232
neurodevelopmental disorder with central hypotonia and dysmorphic facies
is_a
HDAC4-related haploinsufficiency syndrome
exact
brachydactyly intellectual disability syndrome
broad
brachydactyly mental retardation syndrome
broad