| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Spastic paraplegias (SPG11 ) | Spastic paraplegia 11 | Autosomal Recessive | 15q21.1 | Delation | SPG11 | c.5769delT | p.Ser1923Argfs*28 | Frameshift | Zulfiqar et al., 2019/2019 |
