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243500.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Metabolic acidosis; Body odor; Vomiting; Drowsiness
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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_002225.5:c.1184G>A
2
Isovaleric Acidemia
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References
Hertecant et al. 2012
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