Metadata | |
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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 |