| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Amyotrophic Lateral Sclerosis 5 (ALS5,SPG11) | neurodegeneration,upper&lower motor neuron | Autosomal Recessive | 15q21.1 | - | - | - | - | 0/Hentati et al., 1998 |
