Arboleda-Tham syndrome (DOID:0070062)
Alliance: disease page
Synonyms: ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant mental retardation 32; autosomal dominant non-syndromic intellectual disability 32; MRD32
Alt IDs: OMIM:616268, ORDO:457193
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.