Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.2:c.271C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.8.2 | Saudi Arabia | Visual impairment; Nystagmus | Male | Yes | Yes | Brother of 204100.8.1 |