Orphanet: Mucolipidosis type II

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Mucolipidosis type II

Disease definition

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


Classification level: Disorder
  • Synonym(s):
    • I-cell disease
    • Mucolipidosis type II alpha/beta
    • N-acetylglucosamine 1-phosphotransferase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E77.0
  • OMIM: 252500
  • UMLS: C0020725  C2931894
  • MeSH: C538602
  • GARD: 6749
  • MedDRA: -

Detailed information


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