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272800.4
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Subject Details
Country
Lebanon
HPO Terms
Progressive spasticity; Ataxia; Mental deterioration
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000520.5:c.1511G>A
1
Tay-Sachs Disease
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Remarks
Variant absent in father
References
Boustany et al, 1991
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