Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006343.3:c.2323C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613862.2.2 | Morocco | Visual impairment; Rod-cone dystrophy; ; | Male | Yes | Yes | Brother of 613862.2.1 |
| 613862.2.4 | Morocco | ; | Male | Yes | Father of 613862.2.1 | |
| 613862.2.5 | Morocco | ; | Female | Yes | Mother of 613862.2.1 | |
| 613862.2.6 | Morocco | ; | Male | Yes | Brother of 613862.2.1 | |
| 613862.2.7 | Morocco | ; | Male | Yes | Brother of 613862.2.1 | |
| 613862.2.8 | Morocco | ; | Female | Yes | Sister of 613862.2.1 |