Disease & disorder

HDAC3-related neurodevelopmental disorder

MONDO:0700370

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.

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Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

Medications under investigation

Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.