Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020366.3:c.2236G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613826.2.1 | Saudi Arabia | Visual impairment; Abnormal visual fixation; Nystagmus; Retinal pigment epithelial mottling | Female | Yes | Yes |