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Niemann-Pick disease type B

Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • E75.2
  • C0268243
  • D052537
MedDRA -


Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

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Clinical genetics review
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