OnlineIMD

Choline transporter deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • SLC5A7 / Solute Carrier Family 5 Member 7
      • 2q12.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Choline transporter
  • Disease group(s)
    • 1.13    Disorders of methylamine metabolism