Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002354.3:c.499dup | 1 | |||
| NM_002354.3:c.492-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.15.2 | Kuwait | Intractable diarrhea | Male | Yes | Yes | Relative of 613217.15.1 |