Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000744.6:c.851C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600513.1.1 | Lebanon | Nocturnal seizures | Female | Yes | Australian of Lebanese origin; de novo mutation |