Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001182.4:c.228+2T>A |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 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 | |||
| 266100.4.4 | Arab | Female | Father of 266100.4.1 and 266100.4.2 |