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Scheie syndrome

Disease definition

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

ORPHA:93474

  • Synonym(s):
    • MPS1S
    • MPSIS
    • Mucopolysaccharidosis type 1S
    • Mucopolysaccharidosis type IS
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: E76.0
  • OMIM: 607016
  • UMLS: -
  • MeSH: -
  • GARD: 12561
  • MedDRA: -

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