ATP6V1E1-CDG

Synonym(s)
- Autosomal recessive cutis laxa type 2C
Type

Disease
External link(s)
- IEMbase
Gene
- ATP6V1E1 / ATPase H+ Transporting V1 Subunit E1
  22q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- V-type proton ATPase subunit E1
Disease group(s)
- 18.4.3 Disorders of Golgi homeostasis