Term Name: primary autosomal recessive microcephaly 6
Synonyms: MCPH6
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
Ontology: Human Disease [DOID:0070290]   (DOID:0070290)

Relationships
is a type of: primary autosomal recessive microcephaly