Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016247.4:c.189dup | 2 | |||
| NM_001195263.2:c.918dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613581.2.1 | United Arab Emirates | Photophobia; Reduced visual acuity; Rod-cone dystrophy; Retinal pigment epithelial loss on macular OCT | Male | Yes | Yes | |
| 613581.2.2 | United Arab Emirates | Reduced visual acuity; Rod-cone dystrophy; Retinal pigment epithelial loss on macular OCT | Male | Yes | Yes | Sibling of 613581.2.1 |
| 613581.2.3 | United Arab Emirates | Reduced visual acuity; Retinal pigment epithelial mottling | Female | Yes | Yes | Sibling of 613581.2.1 |
| 613581.2.5 | United Arab Emirates | Increased OCT-measured macular thickness | Male | Yes | Yes | Father of 613581.2.1 |
| 613581.2.6 | United Arab Emirates | Increased OCT-measured macular thickness; Myopia | Female | Yes | Yes | Mother of 613581.2.1 |