Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.

Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.