Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006269.2:c.4552A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180100.6.1 | Saudi Arabia | Rod-cone dystrophy; Attenuation of retinal blood vessels; Optic disc pallor; Abnormality of retinal pigmentation; Macular atrophy | Male | Yes | Yes | Index patient |
| 180100.6.2 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.6.1 |
| 180100.6.3 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.6.1 |