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Mucolipidosis type II

Disease definition

A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.

ORPHA:576

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: Antenatal, Neonatal
  • ICD-10: E77.0
  • OMIM: 252500
  • UMLS: C0020725  C2931894
  • MeSH: C538602
  • GARD: 6749
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.