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160800.1
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Subject Details
Country
Lebanon
HPO Terms
Global developmental delay; Optic atrophy; Spinocerebellar tract degeneration; Polyneuropathy
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000083.3:c.2786delC
1
Myotonia Congenita, Autosomal Dominant
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References
Jalkh et al. 2019
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