Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003322.6:c.901C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613843.2.1 | Saudi Arabia | Visual impairment; Nystagmus; Attenuation of retinal blood vessels; Hypermetropia; Dull foveal reflex; Depigmented fundus; Pigmentary retinopathy | Yes | Yes | ||
| 613843.2.3 | Saudi Arabia | Nystagmus; Hypermetropia; Astigmatism; Optic disc pallor; Attenuation of retinal blood vessels; Bone spicule pigmentation of the retina | Yes | Yes | Relative of 613843.2.1 |