Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001298.3:c.1190G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216900.1.1 | United Arab Emirates | Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia | Female | Yes | No | |
| 216900.1.2 | United Arab Emirates | Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia | Male | Yes | No | Brother of 216900.1.1 |
| 216900.1.3 | United Arab Emirates | Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia | Female | Yes | Yes | First cousin, once removed, of 216900.1.1 |
| 216900.1.5 | United Arab Emirates | Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia | Female | Yes | Yes | First cousin, once removed, of 216900.1.1 |