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Human Disease
primary autosomal recessive microcephaly 9
- Term ID
- DOID:0070292
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070292 )
- is a type of
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