Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001004334.3:c.1807C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614565.1.1 | Lebanon | Congenital stationary night blindness; Congenital stationary night blindness; Nystagmus | Male | Yes | Yes | |
| 614565.1.3 | Lebanon | Congenital stationary night blindness; Reduced visual acuity | Female | Yes | Yes | Sibling of 614565.1.1 |
| 614565.1.4 | Lebanon | Female | Mother of 614565.1.1 | |||
| 614565.1.5 | Lebanon | Electronegative electroretinogram | Male | Yes | Father of 614565.1.1 |