Term Name: | Coffin-Siris syndrome 9 |
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Synonyms: | autosomal dominant mental retardation 27, autosomal dominant non-syndromic intellectual disability 27, MRD27 |
Definition: | An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. |
Ontology: | Human Disease [DOID:0070057] ( DOID:0070057 ) |