Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000436.4:c.1286dup | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245050.1.1 | United Arab Emirates | Ketoacidosis; Tachycardia; Dehydration; Fever; Vomiting | Female | No | Yes | Proband |
| 245050.1.3 | United Arab Emirates | Female | No | No | Mother of 245050.1.1 |