HDAC3-related neurodevelopmental disorder
MONDO:0700370Mondo
Findings
No curated finding names HDAC3-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0700370), read 2026-09-29. CC BY 4.0.