Term Name: primary autosomal recessive microcephaly 3
Synonyms: MCPH3
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
Ontology: Human Disease [DOID:0070286]   (DOID:0070286)

Relationships
is a type of: primary autosomal recessive microcephaly