OnlineIMD

Choline acetyltransferase deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • CHAT / Choline Acetyltransferase
      • 10q11.23
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Choline O-acetyltransferase
  • Disease group(s)
    • 23.5    Disorders of acetycholine neurotransmission