| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cone dystrophy 4 | Decreased vision with progressive deterioration, night blindness and nystagmus, now blind | Autosomal Recessive | 10q23.33 | Delation | PDE6C | c.480delG | p.Asn161ThrfsTer33 | Frameshift | Marwan et al., 2023/2023 |
