Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000322.4:c.659G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608133.2 | United Arab Emirates | Abnormal macular morphology; Irregular central macular autofluorescence; Myopia | Male | Father of 608133.2. Refused ERG |