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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

OMIM:617090

Synonyms

MCPH17 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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