Term Name: | primary autosomal recessive microcephaly 5 |
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Synonyms: | MCPH5 |
Definition: | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. |
Ontology: | Human Disease [DOID:0070280] ( DOID:0070280 ) |