Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000238.4:c.2342dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613688.3.1 | Saudi Arabia | Bilateral tonic-clonic seizure; Prolonged QT interval | Female | No | No | |
| 613688.3.3 | Saudi Arabia | Female | Mother of 613688.3.1 |