OnlineIMD

TBC1D24 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • TBC1D24 / TBC1 Domain Family Member 24
      • 16p13.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Tre-2/Bub2/Cdc16 domain family member 24
  • Disease group(s)
    • 23.6    Disorders of the synaptic vesicle cycle
  • Child entries
    • DOORS syndrome
    • Progressive myoclonic epilepsy with dystonia
    • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome