Abstract: Objectives　To analyze the clinical characteristics of children with hepatolenticular degeneration. Methods　 The clinical features, laboratory and imaging data of 124 children with hepatolenticular degeneration diagnosed in the past thirteen years were retrospectively analyzed. Results　The mean onset age was (9.6±2.7）years and the mean age at diagnosis was (10.1±2.7) years. Clinical classification shows 75 cases (60.5%) of hepatic type, 19 cases (15.3%) of neurological type, 20 cases (16.1%) of mixed type, and 10 cases (8.1%) of others types. The onset age of hepatic type was significantly younger than that of the rest three types (P<0.05). The positive rate of corneal Kayser-Fleischer rings was 82.1% (92/112). The abnormality rate of ceruloplasmin was 98.4% (122/124). Among 115 children had testing of 24 h urine copper, the abnormality rate was 96.5% (112/115). The positive family history accounted for 39.5% (49/124). Conclusions　The clinical characteristics of children with hepatolenticular degeneration are diverse, which have different symptoms at onset, also changed with ages. The screening test should be applied in suspected children for early diagnosis and management.