Human genes for Coffin-Siris syndrome 9
Coffin-Siris syndrome 9 [DOID:0070057]
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 SOX11 on chromosome 2p25.2.
Synonyms: Coffin-Siris syndrome 9, CoffinSiris syndrome 9, DOID:0070057, autosomal dominant mental retardation 27, autosomal dominant non-syndromic intellectual disability 27 ...