Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012106.3:c.207+1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615434.1.1 | Morocco | Rod-cone dystrophy ; Best corrected visual acuity 1.0 LogMAR | Female | Yes | Yes | |
| 615434.1.3 | Morocco | Female | Yes | Yes | Unaffected sibling of 615434.1.1 | |
| 615434.1.4 | Morocco | Male | Yes | Unaffected father of 615434.1.1 | ||
| 615434.1.5 | Morocco | Female | Yes | Unaffected mother of 615434.1.1 |