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GENATLAS PHENOTYPE
last update : 18-10-2017
Symbol MPAC
Location 3p24.2
Name microcephaly, polymicrogyria and corpus callosum agenesis
Corresponding gene EOMES
Main clinical features congenital microcephaly (<4DS), ventricular dilatation, and a small cerebellum, with corpus callosum agenesis
Genetic determination autosomal recessive
Function/system disorder mental retardation
neurology
Type MCA/MR
Remark(s)