| Metadata | |
|---|---|
| ID | DOID:0070288 |
| Name | primary autosomal recessive microcephaly 17 |
| Definition | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/27453578 |
| Xrefs | |
| Synonyms |
MCPH17 [EXACT] |
| Parent Relationships |