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GM1 gangliosidosis type 1

Disease definition

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.

ORPHA:79255

  • Synonym(s):
    • Infantile GM1 gangliosidosis
    • Norman-Landing disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.1
  • OMIM: 230500
  • UMLS: -
  • MeSH: -
  • GARD: 6479
  • MedDRA: -

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