Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_201253.3:c.2024G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613835.2.1 | Saudi Arabia | Deeply set eye ; Nystagmus ; Optic atrophy ; Macular atrophy ; Pigmentary retinopathy | Female | Yes | No |