| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder (ARL13B) | Autosomal Recessive | 3q11.1-q11.2 | Substitution | ARL13B | c.599G?>?A | p.(Arg200His) | Misense | Aleem et al., 2025/2025 |
