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Results 1 - 5 of 5 for Hyperekplexia 2
  1. Hereditary hyperekplexia 
    ... Genetic Testing Registry: Hyperekplexia 1 Genetic Testing Registry: Hyperekplexia 2 Genetic Testing Registry: Hyperekplexia 3 Hereditary hyperekplexia National ...
    https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia - Genetics
  2. GLRA1 gene 
    ... reaction, and other signs and symptoms of hereditary hyperekplexia. More About This Health Condition GLRA1_HUMAN glycine receptor, alpha 1 glycine receptor, alpha 1 isoform 1 precursor glycine receptor, alpha 1 isoform 2 precursor STHE Tests of GLRA1 PubMed GLYCINE RECEPTOR, ...
    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 ... disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  4. Molybdenum cofactor deficiency 
    ... of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other ... least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
  5. Asparagine synthetase deficiency 
    ... synthetase deficiency may have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli. Some affected individuals have blindness ... form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics