GM2 gangliosidosis, HEXB-related dog

MONDO:1010883

A lysosomal storage disease in dogs due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Also known as: gangliosidosis, GM2, type II (Sandhoff or variant 0), dog

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