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 HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

Synonyms: Total Hexosaminidase Deficiency, Sandhoff Disease, Infantile, Sandhoff-Jatzkewitz-Pilz Disease, Sandhoffs Disease, Adult Sandhoff Disease, beta-Hexosaminidase-beta-Subunit Deficiencies, Infantile Sandhoff Disease, G(M2) Gangliosidosis, Type II, Gangliosidosis GM2, Type II, Deficiencies, beta-Hexosaminidase-beta-Subunit, Disease, Sandhoff-Jatzkewitz-Pilz, beta Hexosaminidase beta Subunit Deficiency, Hexosaminidase Deficiency, Total, beta-Hexosaminidase-beta-Subunit Deficiency, Sandhoff's Disease, Total Hexosaminidase Deficiencies, Deficiency, beta-Hexosaminidase-beta-Subunit, Hexosaminidases A And B Deficiency, Type II GM2-Gangliosidoses, GM2-Gangliosidosis, Type II, Hexosaminidase A and B Deficiency Disease, GM2 Gangliosidosis, Type 2, Type II GM2-Gangliosidosis, Sandhoff Jatzkewitz Pilz Disease, Hexosaminidase Deficiencies, Total, Sandhoff Disease, GM2-Gangliosidoses, Type II, Gangliosidosis G(M2), Type II, Deficiency, Total Hexosaminidase, Deficiency Disease, Hexosaminidase A and B, Juvenile Sandhoff Disease, Sandhoff Disease, Adult, GM2 Gangliosidosis, Type II, Sandhoff Disease, Juvenile, Deficiencies, Total Hexosaminidase