Introduction. Wilson disease (WD) is an inherited disorder caused by ATP7B gene mutation associated with considerable variation in clinical and genotypical presentations. Aim. The study aims to evaluate the clinical and genotypic aspects of patients with Wilson's disease in the Republic of Moldova. Methods. There were analyzed retrospectively 60 patients with WD, between 2006 and 2021. The Leipzig score ≥4 was used to confirm the diagnosis. The age and the symptoms at presentation were used as key phenotypic markers. The genetic test was performed in 23 cases (13 women and 10 men) by the Sanger sequencing method, examining exons with a high and moderate frequency of mutations. Results. The mean age was 29 years (range 3-69 years), and the female-male ratio is 1:1.09. The patients mostly originate from the center (44%) and south (44%) of the country. In 15 cases (25%), the diagnosis was suspected in childhood. Hepatic onset was more common in females (p<0.01) and neurologic presentation in males (P < 0.05). The most frequent variants detected in patients are identified at exons 8, 14, and 20. In 35% of patients the homozygous recessive p.H1069Q mutation was detected, in 26% compound heterozygous mutations with different associations were observed, in 8 patients (35%) only 1 mutation was identified and in 1 patient (4%) - no mutation was identified. Conclusions. In the Republic of Moldova, the most frequent p.H1069Q mutation is associated with a hepatic onset predominant in women and a neurological onset predominant in men.