Female
Yes
Yes
| 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 |
|---|---|---|---|---|---|---|
| 210370.3.1 | Lebanon | Blindness; Chorioretinal atrophy | Female | Yes | No | F3:IV-7 |
| 210370.3.3 | Lebanon | Blindness; Chorioretinal atrophy | Male | Yes | Yes | Son of 210370.3.1 (F3:V-3) |
| 210370.3.4 | Lebanon | Nyctalopia; Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Paracentral scotoma; Retinal crystals | Female | Yes | Yes | Daughter of 210370.3.1 (F3:V-8) |