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300100.2
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Subject Details
Country
Lebanon
HPO Terms
Developmental regression; Hearing impairment; Adrenal insufficiency
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000033.4:c.1813C>G
2
Adrenoleukodystrophy
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References
Nair et al. 2018
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