GTR Home > Conditions/Phenotypes > GM1 gangliosidosis

Summary

An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas. [from NCI]

Available tests

33 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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