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GENATLAS PHENOTYPE
last update : 22-08-2012
Symbol STHEEX
Location Xq11.1
Name Startle disease, hyperekplexia, with epilepsia
Other name(s)
  • Epileptic encephalopathy, early infantile, 8
  • Corresponding gene ARHGEF9
    Other symbol(s) EIEE8
    Main clinical features
  • cyanosis and muscular stiffness, tonic seizures that were provoked by tactile stimulation, with progressive epileptic encephalopathy, and severe mental retardation
  • in females, mild mental retardation with pronounced sensory hyperarousal
  • Genetic determination sex linked
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)