Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015120.4:c.10945G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.2.1 | Saudi Arabia | Visual loss; Horizontal nystagmus; Cataract | Female | Yes | Yes | |
| 204000.2.2 | Saudi Arabia | Visual loss; Horizontal nystagmus; Cataract | Male | Yes | Yes | Brother of 204000.2.1 |
| 204000.2.3 | Saudi Arabia | Visual loss; Horizontal nystagmus; Cataract | Male | Yes | Yes | Brother of 204000.2.1 |
| 204000.2.5 | Saudi Arabia | Visual loss; Horizontal nystagmus; Cataract | Male | Yes | No | First-cousin of 204000.2.1 |
| 204000.2.6 | Saudi Arabia | Visual loss; Horizontal nystagmus; Cataract | Female | Yes | No | First-cousin of 204000.2.1 |