OnlineIMD

Synaptotagmin 1 deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • SYT1 / synaptotagmin 1
      • 12q21.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Synaptotagmin-1
  • Disease group(s)
    • 23.6    Disorders of the synaptic vesicle cycle