OnlineIMD
Sandhoff disease
Synonym(s)
GM2 gangliosidosis O variant
,
Beta-hexosaminidase A+B deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HEXB
/ Hexosaminidase Subunit Beta
5q13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hexosaminidase subunit beta
Parent entry
GM2 gangliosidosis
Child entries
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form