Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020366.3:c.2608_2609insA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613826.1.1 | United Arab Emirates | Visual impairment; Nystagmus ; Photophobia | Female | Yes | Yes | Proband |
| 613826.1.2 | United Arab Emirates | Visual impairment; Nystagmus ; Photophobia | Female | Yes | Yes | Sister of 613826.1.1 |
| 613826.1.3 | United Arab Emirates | Male | Yes | Unaffected father of 613826.1.1 |