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Metadata
ID DOID:0070280
Name primary autosomal recessive microcephaly 5
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
https://www.ncbi.nlm.nih.gov/pubmed/12355089
Xrefs

OMIM:608716

Synonyms

MCPH5 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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