| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spastic Paralysis (IAHSP2, ALS2) | Neurodegenerative disorder, IAHSP | Autosomal Recessive | 2q33.1 | Missense | ALS2 | 194T>C | Phe65Se | Amino Acid Substitution | Daud et al., 2016/2016 |
| Spastic Paralysis (IAHSP2, ALS2) | Neurodegenerative disorder, IAHSP | Autosomal Recessive | 2q33.1 | Deletion | ALS2 | 2998delA | Ile1000* | Pre-mature Termination | Daud et al., 2016/2016 |
