ATP6AP1-CDG

Synonym(s)
- Immunodeficiency type 47
Type

Disease
External link(s)
- IEMbase
Gene
- ATP6AP1 / ATPase H+ Transporting Accessory Protein 1
  Xq28
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase H+ transporting accessory protein 1
Disease group(s)
- 18.4.3 Disorders of Golgi homeostasis