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Mucolipidosis type III

Disease definition

A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).


Classification level: Disorder
  • Synonym(s):
    • Pseudo-Hurler polydystrophy
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.0
  • ICD-11: 5C56.20
  • OMIM: 252600  252605
  • UMLS: C0033788
  • MeSH: -
  • GARD: 3806
  • MedDRA: 10072929

Detailed information


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