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GENATLAS PHENOTYPE
last update : 12-04-2019
Symbol EIEE70
Location 6p24.1
Name epileptic encephalopathy, early infantile, 70
Corresponding gene PHACTR1
Main clinical features
  • seizures in the first months of life and also global developmental delay
  • EEG showed hypsarrhythmia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)