Results: There was correlation between genotype and phenotype in our patients with WD: The more mutant alleles the patients have, the less serum ceruloplasmin concentration they have and the more 24-hour urinary copper; Neurological-hepatic type of presentation is more common in patients with 2 nonsense / frameshift mutant alleles than in others type of mutation; Patients with 2 nonsense / frameshift mutation alleles have lower serum ceruloplasmin concentration than the others with 1 nonsense / frameshift mutant alleles or missense/5'UTR regional mutant alleles; Patients with 2 nonsense / frameshift mutant alleles have higher 24-hour urinary copper concentration than the others with 1 nonsense / frameshift mutant alleles or missense/5'UTR regional mutant alleles.