primary autosomal recessive microcephaly (DOID:0070296)
Alliance: disease page
Synonyms: MCPH
Alt IDs: OMIM:PS251200, ORDO:2512
Definition: A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.