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GENATLAS PHENOTYPE

last update : 27-08-2015

Symbol	MPPH3
Location	12p13.32
Name	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Corresponding gene	CCND2
Main clinical features	macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly; most affected individuals have severely delayed psychomotor development brain imaging showed bilateral perisylvian polymicrogyria or frontoparietal polymicrogyria
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)