602579.2.1

Country

United Arab Emirates

HPO Terms

Hyperinsulinemic hypoglycemia; Elevated hepatic transaminase; Hypoalbuminemia; Hepatomegaly;
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002435.2:c.863C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
602579.2.2United Arab Emirates;FemaleMother of 602579.2.1
602579.2.3United Arab Emirates;MaleFather of 602579.2.1
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