606176.2

Syria

Diabetic ketoacidosis

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000525.4:c.601C>T	1		Diabetes Mellitus, Permanent Neonatal, 2

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606176.4	Syria	Premature birth; Intraventricular hemorrhage; Hyperglycemia; Motor delay; Failure to thrive; Delayed speech and language development	Male	Yes	Yes	Father and twin brother have diabetes