| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| CamptodactylyArthropathyCoxaVaraPericarditi (PRG4) | Joints, tendons, pericardium defects | Autosomal Recessive | 1q31.1 | Deletion | PRG4 | 2816_2817delAA | Lys939fs*38 | Frame shift mutation & PTC | Basit et al., 2011/2011 |
