Term Name: | Coffin-Siris syndrome 4 |
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Synonyms: | autosomal dominant mental retardation 16, CSS4, MRD16 |
Definition: | A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. |
Ontology: | Human Disease [DOID:0070046] ( DOID:0070046 ) |