Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_133497.4:c.427G>T | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610356.G.1 | Saudi Arabia | Cone/cone-rod dystrophy; Reduced visual acuity; Color vision defect | Group of 7 patients diagnosed either at birth or infancy | |||
| 610356.G.2 | Saudi Arabia | Cone dystrophy | Yes | Unknown number of members from an Emirati family. (Designated as Family 9 in the publication) | ||
| 610356.G.3 | Saudi Arabia | Blurred vision; Nyctalopia; Retinal dystrophy; Abnormal macular morphology; Abnormal electroretinogram | Yes | Group of 14 patients from 9 families | ||
| 610356.G.5 | Saudi Arabia | Cone/cone-rod dystrophy | Unknown | No | Family with unknown number of affected members | |
| 610356.G.6 | Saudi Arabia | Cone/cone-rod dystrophy | Unknown | No | Family with unknown number of affected members |