Term Name: | Coffin-Siris syndrome 2 |
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Synonyms: | autosomal dominant mental retardation 14, CSS2, MRD14 |
Definition: | A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. |
Ontology: | Human Disease [DOID:0070044] ( DOID:0070044 ) |