Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014249.4:c.119-2A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268100.3.1 | Palestine | Retinal dystrophy | Female | Yes | Yes | |
| 268100.3.3 | Palestine | Male | Yes | Unaffected father of 268100.3.1 | ||
| 268100.3.4 | Palestine | Female | Yes | Unaffected mother of 268100.3.1 |