Term Name: primary autosomal recessive microcephaly 8
Synonyms: MCPH8
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
Ontology: Human Disease [DOID:0070282]   ( DOID:0070282 )

Relationships
is a type of: primary autosomal recessive microcephaly