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Mucolipidosis type III

Disease definition

A rare, inborn error of metabolism characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. Progressive hip dysplasia may cause bone pain and leads to waddling gait. Other features may include mild corneal clouding, carpal tunnel syndrome, cardiac valvular disease, mild coarsening of facial features, and mild intellectual disability.

ORPHA:577

Classification level: Disorder
  • Synonym(s):
    • Pseudo-Hurler polydystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.0
  • OMIM: 252600  252605
  • UMLS: C0033788
  • MeSH: -
  • GARD: 3806
  • MedDRA: -

Detailed information

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