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Metadata
ID DOID:0070286
Name primary autosomal recessive microcephaly 3
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
https://www.ncbi.nlm.nih.gov/pubmed/15793586
Xrefs

OMIM:604804

Synonyms

MCPH3 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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