| p.G301C | Common in Caucasian populations |
| p.R94C | Frequent missense variant |
| p.W333X | Nonsense variant |
| Keratan sulfate | Accumulates in cornea, cartilage, bone |
| Chondroitin-6-sulfate | Component of cartilage and connective tissue |
| Chroitin-6-sulfate | Particularly in cartilage |
| Cellular dysfunction | Lysosomal swelling and cytoplasmic vacuolization |
| Extracellular matrix disruption | Tissue architecture disruption |
| Cellular signaling alterations | Growth factor and cytokine dysregulation |
| Chronic inflammation | Tissue damage triggers inflammatory responses |
| Cartilage | Proteoglycan accumulation disrupts growth and structure |
| Bone | Endochondral ossification abnormalities cause skeletal dysplasia |
| Databases | OMIMOrphanetClinicalTrialsPubMed |