Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002435.2:c.863C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602579.2.1 | United Arab Emirates | Hyperinsulinemic hypoglycemia; Elevated hepatic transaminase; Hypoalbuminemia; Hepatomegaly; | Female | No | Yes | |
| 602579.2.3 | United Arab Emirates | ; | Male | Father of 602579.2.1 |