Patients with KDELR2 mutations have been clinically diagnosed with progressively deforming Osteogenesis Imperfecta (or OI type 2B/3) according to the Sillence classification.
- Multiple bone fractures
- Short stature
- Skeletal deformities (bowing and shortening of upper and lower extremities, scoliosis, chest deformity)
- Joint hypermobility
- (Blue sclera, crumbling teeth and cardiac anomalies are also reported)