215751.5.2

Country

Oman; United Arab Emirates

HPO Terms

Hyperammonemia
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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 215751.5.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
215751.5.1Oman; United Arab EmiratesHyperammonemia; Failure to thriveFemaleYesPatient's parents belong to the same tribe
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