Term Name: primary autosomal recessive microcephaly 1
Synonyms: MCPH1
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
Ontology: Human Disease [DOID:0070285]   ( DOID:0070285 )

Relationships
is a type of: primary autosomal recessive microcephaly