Coffin-Siris syndrome 9 (DOID:0070057)
Alliance: disease page
Synonyms: autosomal dominant mental retardation 27; autosomal dominant non-syndromic intellectual disability 27; MRD27
Alt IDs: OMIM:615866
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.