Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_207352.3:c.1372G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210370.1.1 | Lebanon | Nyctalopia; Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Scotoma; Retinal crystals | Female | Yes | No | F1:II-1 |
| 210370.1.2 | Lebanon | Nyctalopia; Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Paracentral Scotoma; Retinal crystals | Female | Yes | No | Sister of 210370.1.1 (F1:II-2) |
| 210370.1.3 | Lebanon | Male | No | No | Father of 210370.1.1 |