Term Name: | primary autosomal recessive microcephaly 17 |
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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 ) |