606176.2

Country

Syria

HPO Terms

Diabetic ketoacidosis
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000525.4:c.601C>T1

Remarks

Diagnosed at 6 weeks and switched from insulin to oral sulphonylurea at 9 months of age

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
606176.4SyriaPremature birth; Intraventricular hemorrhage; Hyperglycemia; Motor delay; Failure to thrive; Delayed speech and language developmentMaleYesYesFather and twin brother have diabetes
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