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250100.3
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Subject Details
Country
Lebanon
HPO Terms
Difficulty walking; Poor fine motor coordination; Dementia; Spasticity
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Sex
Male
Family History
No
Parental Consanguinity
Yes
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
Harvey et al. 1993
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