HDAC4-related haploinsufficiency syndrome
MONDO:1060110Mondo
Findings
No curated finding names HDAC4-related haploinsufficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:1060110), read 2026-09-29. CC BY 4.0.