| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder (NPHP4) | Autosomal Recessive | 1p36.31 | Deletion | NPHP4 | c.305_306del | p.(Asn102ThrfsTer13) | Premature stop codon | Aleem et al., 2025/2025 |
