| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ehlers-Danlos musculocontractural type 2 (EDSMC2) | Skin hyperextensibility, articular hypermobility, and tissue fragility | Autosomal Recessive | 6q22.1 | Substitution | DSE | c.2813T>A | p.Val938Asp | Missense | Ullah et al., 2021/2021 |
