Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001298.3:c.847C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216900.2.1 | United Arab Emirates | Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia | Male | Yes | No |