Term Name: primary autosomal recessive microcephaly 5
Synonyms: MCPH5
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
Ontology: Human Disease [DOID:0070280]   ( DOID:0070280 )

Relationships
is a type of: primary autosomal recessive microcephaly