OnlineIMD

Sialin deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • SLC17A5 / solute carrier family 17 member 5
      • 6q13
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Sialin
  • Disease group(s)
    • 3.6        Disorders of carbohydrate transmembrane transport and absorption
  • Child entries
    • Infantile sialic acid storage disease
    • Salla disease
    • Salla disease, intermediate severe