OnlineIMD

ABHD16A deficiency

  • Synonym(s)
    • Autosomal recessive spastic paraplegia type 86
  • Type
    Disease
  • External link(s)
    • Orphanet
  • Gene
    • ABHD16A / abhydrolase domain containing 16A
      • 6p21.33
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Abhydrolase domain-containing protein 16A
  • Disease group(s)
    • 14.5.1    Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism