- TypeGroup
- Disease group(s)
- Child entries
- Glycosaminoglycan xylosylkinase deficiency
- Desbuquois dysplasia type 2
- Spondyloocular syndrome
- Spondylosdysplastic Ehlers-Danlos syndrome
- Schneckenbecken dysplasia
- B3GAT3-CDG
- Multiple hereditary exostoses
- EXTL3-CDG
- NDST1-CDG
- HS2ST1-CDG
- HS6ST1-CDG
- HS6ST2-CDG
- CSGALNACT1-CDG
- Temtamy preaxial brachydactyly syndrome
- CHST11-CDG
- Spondyloepiphyseal dysplasia with congenital joint dislocations
- Musculocontractural Ehlers-Danlos syndrome
- Macular corneal dystrophy
- Desbuquois dysplasia type 1
- Renal/intestinal sulfate transporter deficiency
- Sulfate transporter deficiency
- Phosphoadenosine 5'-phosphosulfate transporter deficiency
- Phosphoadenosine 5'-phosphosulfate synthetase 2 deficiency
- Golgi-resident phosphoadenosine phosphate phosphatase deficiency
- SLC10A7-CDG