Term Name: Coffin-Siris syndrome 9
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 )

Relationships
is a type of: Coffin-Siris syndrome