Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_172107.4:c.1126del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 121200.1.1 | United Arab Emirates | Clonic seizure | Female | Yes | Yes | Proband |
| 121200.1.2 | United Arab Emirates | Seizure | Male | Yes | Yes | Brother of 121200.1.1 |
| 121200.1.4 | United Arab Emirates | Seizure | Male | Yes | Yes | Father of 121200.1.1 |
| 121200.1.5 | United Arab Emirates | Seizure | Female | Yes | First cousin of 121200.1.1 | |
| 121200.1.6 | United Arab Emirates | Seizure | Female | Yes | Relative of 121200.1.1 | |
| 121200.1.7 | United Arab Emirates | Seizure | Female | Yes | Relative of 121200.1.1 | |
| 121200.1.8 | United Arab Emirates | Seizure | Male | Yes | Relative of 121200.1.1 | |
| 121200.1.9 | United Arab Emirates | Seizure | Male | Yes | Relative of 121200.1.1 |