Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.3:c.643+1G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.11.1 | Saudi Arabia | Nystagmus; Foveal atrophy; Attenuation of retinal blood vessels; Optic atrophy | Yes | Yes | ||
| 204100.11.2 | Saudi Arabia | Nystagmus; Abnormality of retinal pigmentation; Attenuation of retinal blood vessels | Yes | Yes | Relative of 204100.11.1 | |
| 204100.11.3 | Saudi Arabia | Nyctalopia; Attenuation of retinal blood vessels | Yes | Yes | Relative of 204100.11.1 | |
| 204100.11.5 | Saudi Arabia | Optic disc pallor; Undetectable electroretinogram; Nystagmus | Yes | Yes | Relative of 204100.11.1 |