PTDSS1-related disease

Type

Disease
External link(s)
- Orphanet
Gene
- PTDSS1 / Phosphatidylserine synthase 1
  8q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylserine synthase 1, mitochondrial
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Child entries
- Phosphatidylserine synthase 1 superactivity