| Metadata | |
|---|---|
| ID | DOID:0070062 |
| Name | Arboleda-Tham syndrome |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARTHS [EXACT] autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [EXACT] autosomal dominant mental retardation 32 [EXACT] autosomal dominant non-syndromic intellectual disability 32 [EXACT] MRD32 [EXACT] |
| Parent Relationships |