OnlineIMD

DDHD2 deficiency

  • Synonym(s)
    • Autosomal recessive spastic paraplegia type 54
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • DDHD2 / DDHD2
      • 8p11.23
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Phosphatidic acid phosphatase type 2 domain-containing protein
  • Disease group(s)
    • 14.5.1    Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism