| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder (SPG11) | Autosomal Recessive | 15q21.1 | Deletion | SPG11 | c.6811_6812del | p.(Leu2271AspfsTer68) | Premature Terminition | Aleem et al., 2025/2025 |
