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Sanfilippo syndrome type C

ORPHA:79271

Classification level: Subtype of disorder
  • Synonym(s):
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Mucopolysaccharidosis type IIIC
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • OMIM: 252930
  • UMLS: C0086649
  • MeSH: -
  • GARD: 7073
  • MedDRA: -

Summary

This disease is described under Mucopolysaccharidosis type 3

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