OnlineIMD

Spatacsin deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • SPG11 / Spatacsin
      • 15q21.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Spatacsin
  • Disease group(s)
    • 20.5    Disorders of autophagy
  • Child entries
    • Autosomal recessive spastic paraplegia type 11
    • Axonal Charcot-Marie-Tooth disease type 2X
    • Juvenile amyotrophic lateral sclerosis type 5