Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004183.4:c.830C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611809.2.1 | Lebanon | Vitelliform-like macular lesions; Exudative retinal detachment | Female | No | Yes | |
| 611809.2.3 | Lebanon | Female | No | Mother of 611809.2.1 |