| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spastic paraplegia 11 (SPG11) | Spastic paraplegia 11 | Autosomal Recessive | 15q21.1 | Deletion | SPG11 | c.5769del | p.Ser1923ArgfsTer28 | Premature Terminition | Akram et al., 2024/2024 |
