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