Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000260.4:c.578C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.3.1 | Saudi Arabia | Visual impairment; Nystagmus; Undetectable electroretinogram | Male | Yes | Yes | |
| 204000.3.2 | Saudi Arabia | Visual impairment; Nystagmus; Undetectable electroretinogram | Female | Yes | Yes | Sister of 204000.3.1 |
| 204000.3.4 | Saudi Arabia | Visual impairment; Nystagmus; Undetectable electroretinogram | Male | Yes | Yes | Relative of 204000.3.1 |