Arthrogryposis-renal dysfunction-cholestasis syndrome type 1

Type

Disease
External link(s)
- IEMbase
Gene
- VPS33B / VPS33B
  15q26.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Vacuolar protein sorting-associated protein 33B
Disease group(s)
- 19.4 Disorders of lysosome-related organelle biogenesis