Term Name: | primary autosomal recessive microcephaly 1 |
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Synonyms: | MCPH1 |
Definition: | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. |
Ontology: | Human Disease [DOID:0070285] ( DOID:0070285 ) |