OnlineIMD
Tay-Sachs disease
Synonym(s)
GM2 gangliosidosis B variant
,
Beta-hexosaminidase A deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HEXA
/ Hexosaminidase Subunit Alpha
15q23
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hexosaminidase A
Parent entry
GM2 gangliosidosis
Child entries
Tay-Sachs disease, adult form
Tay-Sachs disease, infantile form
Tay-Sachs disease, juvenile form