OnlineIMD

KIF1A deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • KIF1A / Kinesin Family Member 1A
      • 2q37.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Kinesin-like protein KIF1A
  • Disease group(s)
    • 23.6    Disorders of the synaptic vesicle cycle
  • Child entries
    • Autosomal spastic paraplegia type 30
    • Hereditary sensory and autonomic neuropathy type 2