Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018418.5:c.322C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604232.1.2 | Saudi Arabia | Visual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogram | Male | Yes | Yes | Brother of 604232.1.1 |
| 604232.1.3 | Saudi Arabia | Visual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogram | Male | Yes | Yes | Sister of 604232.1.1 |