Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004183.4:c.1403C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611809.3.1 | Lebanon | Vitelliform-like macular lesions; Exudative retinal detachment | Female | Yes | No | Proband |
| 611809.3.2 | Lebanon | Vitelliform-like macular lesions; Exudative retinal detachment | Female | Yes | No | Sister of 611809.3.1 |
| 611809.3.4 | Lebanon | Female | Mother of 611809.3.1 |