Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001298.3:c.1573G>A | 1 | |||
| NM_001298.3:c.955T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.8 | 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 | |
| 204000.14 | Saudi Arabia | Visual impairment; Nystagmus; Eye poking; Neurodevelopmental delay | Male | No | Yes |