Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_201253.2:c.1345C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 6613835.3.1 | Lebanon | Bull's eye maculopathy; Congenital blindness; | Male | Yes | No | |
| 6613835.3.3 | Lebanon | Male | Father of 6613835.3.1 |