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Up to: Eye disorder · Hereditary peripheral neuropathy · Cerebral lipidosis with dementia · GM2 gangliosidosis

Sandhoff disease

A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.

13 trials tagged with this condition →