Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype

(PCYT1A deficiency)

Type

Disease
External link(s)
- Orphanet
Gene
- PCYT1A / phosphate cytidylyltransferase 1A
  3q29
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- CTP:phosphocholine cytidylyltransferase alpha
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Child entries
- PCYT1A deficiency, retinoskeletal phenotype
- PCYT1A deficiency, lipodystrophy phenotype