Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001182.4:c.1364T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266100.2.1 | Tunisia | Seizure | Male | Yes | Yes | Two deceased affected younger brothers |
| 266100.2.2 | Tunisia | Female | Mother of 266100.2.1 |