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Results 1 - 2 of 2 for Hereditary hyperekplexia
  1. Hereditary hyperekplexia 
    Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, ...
    https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia - Genetics
  2. GLRA1 gene 
    ... the GLRA1 gene have been found to cause hereditary hyperekplexia. This condition is most often seen in infants ... Arg271Leu or R271L).GLRA1 gene mutations that cause hereditary hyperekplexia impair the ability of the glycine receptor protein ...
    https://medlineplus.gov/genetics/gene/glra1 - Genetics