OnlineIMD
Sialidosis
Synonym(s)
Alpha-neuraminidase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
NEU1
/ Neuraminidase 1
6p21.33
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Sialidase
Disease group(s)
20.3 Disorders of glycoprotein degradation/oligosaccharidoses
Child entries
Sialidosis type 1
Sialidosis type 2
Sialidosis type 2, congenital form
Sialidosis type 2, juvenile form