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GENATLAS PHENOTYPE
last update : 27-08-2015
Symbol MPPH2
Location 1q44
Name megalencephaly-polymicrogyria-polydactyly-hydrocephalus 2
Corresponding gene AKT3
Main clinical features
  • overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria, and polydactyly may also be seen
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    osteo-articular
    Type disease
    Remark(s)