One-year-old infant with hepatosplenomegaly and developmental delay.
D000649:Amniocentesis; D002658:Developmental Disabilities / Q000209:etiology* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000150:complications / Q000235:genetics; D006529:Hepatomegaly / Q000209:etiology*; D006801:Humans; D006972:Hypertelorism; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008168:Lung / Q000473:pathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications / Q000235:genetics*; D010024:Osteoporosis / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D013163:Splenomegaly / Q000209:etiology*