| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder (POMT1) | Autosomal Recessive | 9q34.13 | Substitution | POMT1 | c.1583A?>?G | p.(Gln528Arg) | Missense | Aleem et al., 2025/2025 |
