OnlineIMD

Acetylcholine receptor subunit epsilon deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • CHRNE / Cholinergic Receptor Nicotinic Epsilon Subunit
      • 17p13.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Cholinergic receptor nicotinic epsilon subunit protein
  • Disease group(s)
    • 23.5    Disorders of acetycholine neurotransmission