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GENATLAS PHENOTYPE
last update : 18-11-2013
Symbol EIEE16
Location 16p13.3
Name epileptic encephalopathy, early infantile, 16
Corresponding gene TBC1D24
Main clinical features
  • severe neurologic disorder characterized by onset of seizures in the first weeks or months of life, of various types, unresponsive to medication, last for long periods of time
  • psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia, severe mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s)