ATP6V1A-CDG

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

Disease
External link(s)
- IEMbase
Gene
- ATP6V1A / ATP synthase V1 subunit A
  3q13.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase H+ transporting V1 subunit A
Disease group(s)
- 18.4.3 Disorders of Golgi homeostasis