OnlineIMD

COLGALT1-CDG

  • Synonym(s)
    • Brain small vessel disease type 3
  • Type
    Disease
  • Gene
    • COLGALT1 / Collagen Beta(1,O)Galactosyltransferase 1
      • 19p13.11
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Collagen beta-1,O-galactosyltransferase 1
  • Disease group(s)
    • 18.2.4    Other disorders of O-linked protein glycosylation