215751.7.2

Country

Oman; United Arab Emirates

HPO Terms

Hyperammonemia; Elevated circulating creatine kinase concentration; Ketonuria
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Sex

Female

Family History

Yes

Subject Variants

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

Remarks

Relative of 215751.7.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
215751.7.1Oman; United Arab EmiratesHyperammonemia; Elevated circulating creatine kinase concentrationMaleYesParents belong to the same tribe
215751.7.3Oman; United Arab EmiratesElevated circulating creatine kinase concentrationFemaleYesRelative of 215751.7.1
215751.7.4Oman; United Arab EmiratesHyperammonemia; Elevated circulating creatine kinase concentration; Failure to thriveMaleYesRelative of 215751.7.1
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