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201475.3
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Subject Details
Country
Saudi Arabia
HPO Terms
Decreased circulating carnitine concentration; Atrial septal defect; Failure to thrive
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Sex
Male
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000018.4:c.65C>A
2
Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of
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References
Monies et al. 2017
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