| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spinocerebellar ataxia (SETX) | Ataxia with oculomotor apraxia type 2/Spinocerebellar ataxia, with axonal neuropathy 2 Spinocerebellar | Autosomal Recessive | 9q34.13 | Deletion | SETX | c.5308_5311del | p.Glu1770fs | Frameshift | Saadi et al., 2023/2023 |
