Term Name: | Coffin-Siris syndrome 3 |
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Synonyms: | autosomal dominant mental retardation 15, CSS3, MRD15 |
Definition: | A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. |
Ontology: | Human Disease [DOID:0070045] ( DOID:0070045 ) |