Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001182.4:c.1364T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266100.5 | Tunisia | Seizure | Male | Yes | ||
| 266100.6 | Tunisia | Seizure | Male | Yes | ||
| 266100.7 | Tunisia | Seizure | Male | Yes | ||
| 266100.8 | Tunisia | Seizure | Male | Yes | ||
| 266100.10 | Tunisia | Global developmental delay; Seizure; EEG with temporal sharp waves; Dilation of lateral ventricles | Male | Yes |