Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004183.4:c.209A>G | 1 | |||
| NM_004183.4:c.1403C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611809.1.1 | Lebanon | Yellow/white lesions of the macula; Exudative retinal detachment | Female | Yes | Yes | Proband |
| 611809.1.3 | Lebanon | Vitelliform-like macular lesions | Male | Yes | No | Son of 611809.1.1 |
| 611809.1.4 | Lebanon | Female | Yes | Mother of 611809.1.1 | ||
| 611809.1.5 | Lebanon | Male | Husband of 611809.1.1 | |||
| 611809.1.6 | Lebanon | Female | Yes | Sister of 611809.1.1 | ||
| 611809.1.7 | Lebanon | Male | No | Son of 611809.1.1 |