Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006269.1:c.3428del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180100.7.1 | Saudi Arabia | Rod-cone dystrophy; Attenuation of retinal blood vessels; Abnormality of retinal pigmentation; Optic disc pallor | Male | Yes | Yes | Index patient |
| 180100.7.2 | Saudi Arabia | Rod-cone dystrophy | Male | Yes | Yes | Brother of 180100.7.1 |
| 180100.7.3 | Saudi Arabia | Rod-cone dystrophy | Male | Yes | Yes | Maternal grandfather of 180100.7.1 |
| 180100.7.4 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Maternal great-aunt of 180100.7.1 |
| 180100.7.5 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Maternal great-aunt of 180100.7.1 |