Glycosaminoglycan xylosylkinase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- FAM20B / Family with sequence similarity 20 member B
  1q25.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Family with sequence similarity 20 member B protein
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation