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243500.6
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Subject Details
Country
Egypt
HPO Terms
Metabolic acidosis; Body odor; Attention deficit hyperactivity disorder
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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_002225.5:c.1222G>A
2
Isovaleric Acidemia
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Remarks
The patient had an older affected brother who died at 6 days of age
References
Hertecant et al. 2012
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