Arthrogryposis-renal dysfunction-cholestasis syndrome type 2

Type

Disease
External link(s)
- IEMbase
Gene
- VIPAS39 / VPS39 CORVET and HOPS complex subunit
  14q24.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- VPS39 protein
Disease group(s)
- 19.6.4 Other disorders of vesicular trafficking