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GENATLAS PHENOTYPE
last update : 12-11-2020
Symbol EIEE88
Location 2p15
Name epileptic encephalopathy, early infantile, 88
Corresponding gene MDH1
Main clinical features
  • severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly
  • brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)