ATP6AP2-CDG

Synonym(s)
- X-linked intellectual disability, Hedera type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATP6AP2 / ATPase H+ Transporting Accessory Protein 2
  Xp11.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase H+ transporting accessory protein 2
Disease group(s)
- 18.4.3 Disorders of Golgi homeostasis
Child entries
- Isolated focal cortical dysplasia type Ia