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Metadata
DOID DOID:0070277
Name primary autosomal recessive microcephaly 15
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/26005868
Synonyms

MCPH15 [EXACT]

Xrefs

OMIM:616486

Relationships

is_a primary autosomal recessive microcephaly

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