Human genes for Sandhoff disease
Sandhoff disease [DOID:3323]
A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Synonyms: Sandhoff disease, DOID:3323, Sandhoff disorder, Sandhoff syndrome, Sandhoff diseases ...
Linkouts: OMIM