Term Name: | Schuurs-Hoeijmakers Syndrome |
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Synonyms: | autosomal dominant mental retardation 17, MRD17, SHMS |
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. |
Ontology: | Human Disease [DOID:0070047] ( DOID:0070047 ) |