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GM1 gangliosidosis

Disease definition

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.

ORPHA:354

  • Synonym(s):
    • Beta-galactosidase-1 deficiency
    • GLB1 deficiency
    • Landing disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.1
  • OMIM: 230500  230600  230650
  • UMLS: C0085131  C0268271  C2718068
  • MeSH: D016537
  • GARD: 10891
  • MedDRA: -

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