TRAPPC11 deficiency

Synonym(s)
- Limb-girdle muscular dystrophy type 2S
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TRAPPC11 / Trafficking Protein Particle Complex 11
  4q35.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Trafficking protein particle complex 11
Disease group(s)
- 19.6.2 Disorders of the transport protein particle (TRAPP)
Child entries
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome