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GM1 gangliosidosis type 2

Disease definition

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

ORPHA:79256

  • Synonym(s):
    • Juvenile GM1 gangliosidosis
    • Late-infantile GM1 gangliosidosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.1
  • OMIM: 230600
  • UMLS: C0268272
  • MeSH: -
  • GARD: 10126
  • MedDRA: -

Detailed information

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Further information on this disease

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