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Metadata
ID DOID:0070283
Name primary autosomal recessive microcephaly 13
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
https://www.ncbi.nlm.nih.gov/pubmed/24748105
Xrefs

OMIM:616051

Synonyms

MCPH13 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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