| 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 ) |