Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_145290.4:c.2504C>G | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268000.2 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.3 | Saudi Arabia | Retinal dystrophy | Unknown | No | ||
| 268000.4 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.5 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.6 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.7 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.8 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.9 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.10 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.11 | Saudi Arabia | Rod-cone dystrophy; Obesity; Abnormal facial shape | Unknown | No | ||
| 268000.12 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | ||
| 268000.13 | Saudi Arabia | Rod-cone dystrophy; Progressive night blindness; Cataract; Optic disc pallor; Macular edema | Unknown | No | bone spicules, attenuated retinal arterioles, pale discs, macular edema, and cataracts. |