DISEASES

Disease-gene associations mined from literature

Human genes for primary autosomal recessive microcephaly

Primary autosomal recessive microcephaly [DOID:0070296]

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.

Synonyms:  primary autosomal recessive microcephaly,  DOID:0070296,  primary autosomal recessive microcephalies,  MCPH