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Mucolipidosis type 2

Orpha number ORPHA576
Synonym(s) I-cell disease
N-acetylglucosamine 1-phosphotransferase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • E77.0
  • C0020725
  • C2931894
  • C538602
MedDRA -


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

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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
Clinical genetics review
  • EN (2012)
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