Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.3:c.95-3C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.5.1 | Yemen | Myopia; Optic disc pallor; Bull's eye maculopathy; Severely reduced visual acuity; Attenuation of retinal blood vessels; Retinal flecks | Male | Yes | Yes | |
| 204100.5.3 | Yemen | Myopia; Optic disc pallor; Bull's eye maculopathy; Severely reduced visual acuity; Attenuation of retinal blood vessels; Retinal flecks | Female | Yes | Yes | Sister of 205100.5.1 |