Term Name: Arboleda-Tham syndrome
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder