OnlineIMD

Very long-chain fatty acid elongase 4 deficiency

  • Synonym(s)
    • Pseudo-Sjögren-Larsson syndrome
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • ELOVL4 / ELOVL Fatty Acid Elongase 4
      • 6q14.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Elongation of very long chain fatty acids protein 4
  • Disease group(s)
    • 14.1    Disorders of fatty acyl synthesis, elongation, and recycling
  • Child entries
    • Spinocerebellar ataxia type 34
    • Stargardt disease type 3