| Metadata | |
|---|---|
| ID | DOID:0070047 |
| Name | Schuurs-Hoeijmakers Syndrome |
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/26842493 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 17 [EXACT] MRD17 [EXACT] SHMS [EXACT] |
| Parent Relationships |