615751.10

Country

Oman; United Arab Emirates

HPO Terms

Hyperammonemia; Ketonuria; Global developmental delay; Elevated circulating creatine kinase concentration
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Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001739.2:c.59G>A2

Remarks

Parents belong to the same tribe
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