Abnormal accumulation of lipopigment in cells. Age of onset is 5 years, with visual deterioration progressing to psychomotor retardation and seizures. Cause is mutation on chromosome 16p 12.1. Death occurs by 3rd decade.
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Abnormal accumulation of lipopigment in cells. Age of onset is 5 years, with visual deterioration progressing to psychomotor retardation and seizures. Cause is mutation on chromosome 16p 12.1. Death occurs by 3rd decade.