Term Name: | primary autosomal recessive microcephaly 11 |
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Synonyms: | MCPH11 |
Definition: | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. |
Ontology: | Human Disease [DOID:0070287] ( DOID:0070287 ) |