Phosphocholine cytidylyltransferase 2 deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PCYT2 / Phosphate Cytidylyltransferase 2
  17q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphate cytidylyltransferase 2, choline
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism