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Subject Details
Country
Lebanon
HPO Terms
Intellectual disability; Hypotonia; Developmental regression
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000487.6:c.433C>G
Metachromatic Leukodystrophy
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References
Nair et al. 2018
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