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Metadata
ID DOID:0070287
Name primary autosomal recessive microcephaly 11
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
https://www.ncbi.nlm.nih.gov/pubmed/23418308
Xrefs

OMIM:615414

Synonyms

MCPH11 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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