Phosphatidylserine flippase deficiency

Synonym(s)
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4
Type

Disease
External link(s)
- IEMbase
Gene
- ATP8A2 / ATPase Phospholipid Transporting 8A2
  13q12.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase phospholipid transporting 8A2
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism