| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Infantile ascending hereditary spastic paraplegia (ALS2) | Infantile ascending hereditary spastic paraplegia | Autosomal Recessive | 2q33.1 | Splice site substitution | ALS2 | c.2171-3T>G | -- | Splice site | Saadi et al., 2023/2023 |
| Infantile ascending hereditary spastic paraplegia (ALS2) | Infantile ascending hereditary spastic paraplegia | Autosomal Recessive | 2q33.1 | Substitution | ALS2 | c.3145T>A | p.Tyr1049Asn | Missense | Saadi et al., 2023/2023 |
