ATP6V0A2-CDG

Synonym(s)
- Autosomal recessive cutis laxa type 2A (wrinkly skin syndrome)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATP6V0A2 / ATPase H+ Transporting V0 Subunit A2
  12q24.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- V-type proton ATPase subunit a2
Disease group(s)
- 18.4.3 Disorders of Golgi homeostasis