Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_207352.3:c.332T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210370.2.1 | Lebanon | Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Retinal crystals; | Female | Yes | No | F2:II- 3 |
| 210370.2.3 | Lebanon | Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Retinal crystals | Female | Yes | No | Sister of 210370.2.1 (F2:II-8) |