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Results 1 - 5 of 5 for Hyperekplexia 3
  1. Hereditary hyperekplexia 
    ... Genetic Testing Registry: Hyperekplexia 2 Genetic Testing Registry: Hyperekplexia 3 Hereditary hyperekplexia National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia - Genetics
  2. GLRA1 gene 
    ... C, Oertel J, Melzer N, Becker CM. Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. J Neurochem. 2009 Nov;111(3):837-47. doi: 10.1111/j.1471-4159. ...
    https://medlineplus.gov/genetics/gene/glra1 - Genetics
  3. CLPB deficiency 
    ... problems, which can include an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises, reduced ... associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  4. Asparagine synthetase deficiency 
    ... synthetase deficiency may have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli. Some affected individuals have blindness ... limited asparagine. Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  5. Molybdenum cofactor deficiency 
    ... of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other ... the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics