Metadata | |
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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 |