Torsin 1A deficiency

Synonym(s)
- Artrhogryposis multiplex congenita type 5 (recessive),
- torsion dystonia type 1 (dominant)
Type

Disease
External link(s)
- IEMbase
Gene
- TOR1A / Torsin Family 1, Member A
  9q34.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Torsin-1A
Disease group(s)
- 23.6 Disorders of the synaptic vesicle cycle