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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-09-2016
Symbol MCPH12
Location 7q21.2
Name microcephaly 12, primary
Corresponding gene CDK6
Main clinical features
  • primary microcephaly (-4 to -6 SD); sloping forehead and mild intellectual disability, but understandable speech and appropriate social behavior
  • brain imaging showed a simplified gyral pattern with no gross structural abnormalities
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease
  • CDK6 mutation leads to reduced cell proliferation and impairs the correct functioning of the centrosome in microtubule organization and its positioning near the nucleus which are key determinants during neurogenesis (PMID: 23918663))