Term Name: primary autosomal recessive microcephaly 17
Synonyms: MCPH17
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
Ontology: Human Disease [DOID:0070288]   ( DOID:0070288 )

Relationships
is a type of: primary autosomal recessive microcephaly