| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Idiopathic Nystagmus (FRMD7) | Nystagmus type1 | X Linked | Xq26.2 | Substitution | FRMD7 | c.443T>A | p.Leu148* | Nonsense | Arshad et al., 2023/2023 |
