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Metadata
ID DOID:0070281
Name primary autosomal recessive microcephaly 19
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
https://www.ncbi.nlm.nih.gov/pubmed/29036432
Xrefs

MIM:617800

Synonyms

MCPH19 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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