Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000180.4:c.914del | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204000.G.1 | Saudi Arabia | Retinal dystrophy | Unknown | Yes | Family with unknown number of affected members | |
| 204000.G.2 | Saudi Arabia | Retinal dystrophy; Global developmental delay; Developmental regression; Seizure | Unknown | No | Family with unknown number of affected members | |
| 204000.G.3 | Saudi Arabia | Retinal dystrophy | Unknown | No | Family with unknown number of affected members |