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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The neurological complications of the sphingolipidoses may become apparent early in childhood:

  • hypotonia in the infant
  • developmental delay
  • ataxia
  • poor school performance
  • spasticity

Non-neurological features include:

  • renal impairment in Fabry disease
  • splenomegaly in non-neuronopathic Niemann-Pick
  • hepatosplenomagaly in Gaucher disease

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