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Sandhoff disease

Disease definition

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

ORPHA:796

  • Synonym(s):
    • GM2 gangliosidosis 0 variant
    • Hexosaminidases A and B deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: E75.0
  • OMIM: 268800
  • UMLS: C0036161
  • MeSH: D012497
  • GARD: 2521  7604
  • MedDRA: -

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