Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001182.4:c.228+2T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266100.4.1 | Arab | Seizure | Male | Yes | Brother of 266100.4.2 | |
| 266100.4.2 | Arab | Seizure | Female | Yes | Sister of 266100.4.1 | |
| 266100.4.3 | Arab | Female | Mother of 266100.4.1 and 266100.4.2 |