| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuromuscular disorder (MMP2) | Autosomal Recessive | 16q12.2 | Deletion | MMP2 | c.1287del | p.(Asn430ThrfsTer68) | Premature Stop Codon | Anfaal et al., 2025/2025 |
