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Arboleda-Tham syndrome
Summary
- Synonym
-
- ARTHS
- MRD32
- autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- autosomal dominant mental retardation 32
- autosomal dominant non-syndromic intellectual disability 32
- Definition
- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070062
- Mondo Disease Ontology
- ORDO
- OMIM
