ABSTRACT
Paralysis of vertical gaze, ataxia, dystonia, hypotonia, prolonged neonatal icterus, hepatosplenomegaly, dementia, foam cells, lysosomal storage of cholesterol, and impaired cellular esterification of cholesterol.
Paralysis of vertical gaze, ataxia, dystonia, hypotonia, prolonged neonatal icterus, hepatosplenomegaly, dementia, foam cells, lysosomal storage of cholesterol, and impaired cellular esterification of cholesterol.