An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of and . Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from .
Sphingolipidose héréditaire de Sandhoff /
Déficit en hexosaminidases A et B /
Gangliosidose à GM2 de type 2 /
Gangliosidose à GM2 de type II /