Arboleda-Tham syndrome

Term ID

DOID:0070062

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. https://www.ncbi.nlm.nih.gov/pubmed/25728775

References

• OMIM:616268
• ORDO:457193

Ontology

Human Disease   ( DOID:0070062 )