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Results 1 - 5 of 5 for 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 
    ... GLRA1 gene have been found to cause hereditary hyperekplexia. This condition is most often seen in infants ... or R271L).GLRA1 gene mutations that cause hereditary hyperekplexia impair the ability of the glycine receptor protein ...
    https://medlineplus.gov/genetics/gene/glra1 - Genetics
  3. Molybdenum cofactor deficiency 
    ... of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
  4. CLPB deficiency 
    ... problems, which can include an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises, reduced ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  5. Asparagine synthetase deficiency 
    ... synthetase deficiency may have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli. Some affected individuals have blindness ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics