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Metadata
ID DOID:0070290
Name primary autosomal recessive microcephaly 6
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
https://www.ncbi.nlm.nih.gov/pubmed/15793586
Xrefs

OMIM:608393

Synonyms

MCPH6 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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