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250950.1
Home
Subject Details
Country
Lebanon
HPO Terms
Organic aciduria
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001698.2:c.80delG
2
3-Methylglutaconic Aciduria, Type I
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Remarks
Elevated C5-OH-carnitine in newborn screening
References
Ly et al, 2003
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