Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016247.4:c.533+4_533+7del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613581.4.1 | United Arab Emirates | Reduced visual acuity; Esotropia; Peripapillary atrophy; Optic disc pallor; Attenuation of retinal blood vessels; Retinal pigment epithelial mottling; Hyperautofluorescent retinal lesion | Female | Yes | Yes |