Term Name: | primary autosomal recessive microcephaly 9 |
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Synonyms: | MCPH9 |
Definition: | A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. |
Ontology: | Human Disease [DOID:0070292] ( DOID:0070292 ) |