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Metadata
ID DOID:0070285
PURL http://purl.obolibrary.org/obo/DOID_0070285 Copy
Name primary autosomal recessive microcephaly 1
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
https://www.ncbi.nlm.nih.gov/pubmed/12046007
Xrefs

MIM:251200

Synonyms

MCPH1 [EXACT]

Parent Relationships

is_a autosomal recessive primary microcephaly

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