Phosphoadenosine 5'-phosphosulfate synthetase 2 deficiency

Synonym(s)
- Spondyloepimetaphyseal dysplasia, Pakistani type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PAPSS2 / 3'-phosphoadenosine 5'-phosphosulfate synthase 2
  10q23.2-q23.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation
Child entries
- Autosomal recessive brachyolmia