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610181.1
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Subject Details
Country
Lebanon
HPO Terms
Developmental regression; Leukodystrophy; Metachromatic leukodystrophy variant; Abnormal myelination
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_024570.3:c.529G>A
2
AicardiI-Goutieres Syndrome 2
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References
Nair et al. 2018
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