Genotype-phenotype correlations found in patients with Wilson’s disease.

Abbreviation and Notes: “−”, negative; “+”, positive; A, asymptomatic; y, years; K-F, Kayser-Fleischer; These results demonstrate that the H1069Q/M769H-fs genotype is associated with common neurological symptoms at the time of diagnosis (dysarthria, dysphagia and K-F rings) and similar ages of onset, except for the two asymptomatic children that can have an identical clinical course without treatment. Patient numbering is represented as indicated in the pedigree.