Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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
	neurology
Type	disease

Remark(s)

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))