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615751.9
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Subject Details
Country
Oman; United Arab Emirates
HPO Terms
Hyperammonemia; Ketonuria; Failure to thrive; Global developmental delay
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001739.2:c.59G>A
2
Carbonic Anhydrase VA Deficiency, Hyperammonemia Due To
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Remarks
Parents belong to the same tribe
References
Al-Thihli et al. 2024
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