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