Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000343.4:c.83A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606824.1.1 | Lebanon | Diarrhea; Dehydration | Male | Yes | ||
| 606824.1.2 | Lebanon | Male | Father of 606824.1.1 |