| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spastic paraplegia 26 (B4GALNT1) | Spastic paraplegia 26 | Autosomal Recessive | 12q13.3 | Duplication | B4GALNT1 | c.334_335dup | p.Ala113GlyfsTer27 | Frameshift | Saadi et al., 2023/2023 |
