245050.1.1

Country

United Arab Emirates

HPO Terms

Ketoacidosis; Tachycardia; Dehydration; Fever; Vomiting
Back to search Result
Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000436.4:c.1286dup2NA

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
245050.1.2United Arab EmiratesMaleNoNoFather of 245050.1.1
245050.1.3United Arab EmiratesFemaleNoNoMother of 245050.1.1
Back to search Result
© CAGS 2024. All rights reserved.