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Subject Details
Country
Lebanon
HPO Terms
Nystagmus; Hypotonia; Hyperreflexia; Developmental regression; Leukodystrophy; Abnormal myelination
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001085427.2:c.827C>T
2
Metachromatic Leukodystrophy
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References
Nair et al. 2018
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