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Table 1 Classification of signs and symptoms in NP-C

From: Niemann-Pick disease type C symptomatology: an expert-based clinical description

Visceral  
  Isolated unexplained splenomegaly
  Hepatomegaly/Splenomegaly
  Prolonged neonatal cholestatic jaundice
  Hydrops foetalis or foetal ascites
  Pneumopathologies (aspiration pneumonia, alveolar lipidosis, interstitial lung involvement)
  Mild thrombocytopenia
Neurological  
  Vertical supranuclear gaze palsy
  Gelastic cataplexy
  Ataxia
  Dystonia
  Dysarthria
  Dysphagia
  Hypotonia
  Clumsiness
  Delayed developmental milestones
  Seizures
  Hearing loss
Psychiatric  
  Developmental delay and pre-senile cognitive decline
  Organic psychosis
  Disruptive/aggressive behaviour
  Progressive development of treatment-resistant psychiatric symptoms
  1. Abbreviation: NP-C, Niemann-Pick disease type C.