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149400.2
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Subject Details
Country
Syria
HPO Terms
Seizure ; Exaggerated startle response ; Sleep myoclonus
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000171.4:c.994G>A
1
Hyperekplexia, Hereditary 1
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References
Wadi et al, 2018
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