Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000180.3:c.2285del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.8 | Saudi Arabia | Retinal dystrophy | Unknown | No | ||
| 204000.9 | Saudi Arabia | Retinal dystrophy | Unknown | No | ||
| 204000.10 | Saudi Arabia | Visual impairment; Nystagmus | Female | No | Yes | |
| 204000.11 | Saudi Arabia | Visual impairment; Nystagmus; Eye poking | Female | No | Yes | |
| 204000.12 | Saudi Arabia | Visual impairment; Nystagmus; Eye poking; Neurodevelopmental delay | Female | No | Yes | |
| 204000.13 | Saudi Arabia | Visual impairment; Nystagmus; Eye poking; Neurodevelopmental delay | Female | No | Yes |