Term Name: | Arboleda-Tham syndrome |
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Synonyms: | ARTHS, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, autosomal dominant mental retardation 32, autosomal dominant non-syndromic intellectual disability 32, MRD32 |
Definition: | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. |
Ontology: | Human Disease [DOID:0070062] ( DOID:0070062 ) |