Term Name: | Coffin-Siris syndrome 1 |
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Synonyms: | autosomal dominant mental retardation 12, CSS1, fifth digit syndrome, MRD12 |
Definition: | A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. |
Ontology: | Human Disease [DOID:0070042] ( DOID:0070042 ) |