Term Name: | primary autosomal recessive microcephaly |
---|---|
Synonyms: | MCPH |
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. |
Ontology: | Human Disease [DOID:0070296] ( DOID:0070296 ) |