Sandhoff disease

Orpha code: 796OMIM code: 268800

Definition

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.

Disease data
Classification

Disease

Synonyms
GM2 gangliosidosis 0 variant
Gangliozydoza GM2 typ 0
Niedobór heksozoaminidazy A i B
Hexosaminidases A and B deficiency
ORPHA code
796
OMIM code
268800
ICD10 code
E75.0
ICD11 code
5C56.00

No additional description.

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