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GM1 gangliosidosis type 3

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
Uniprot Description A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009262:  GM1 gangliosidosis type 3
GARD:0002431: 
Orphanet:79257: 
SCTID:238027003: