Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000162.5:c.635_637del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606176.2 | United Arab Emirates | Diabetic ketoacidosis | Female | No | Yes | Diagnosed at 6 weeks and switched from insulin to oral sulphonylurea at 9 months of age |