Juvenile form of Niemann-Pick disease.
D000367:Age Factors; D002490:Central Nervous System / Q000473:pathology; D002648:Child; D004830:Epilepsy, Tonic-Clonic; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009542:Niemann-Pick Diseases / Q000235:genetics / Q000473:pathology; D012160:Retina / Q000473:pathology; D013064:Speech Disorders