Pathogenic variants in the WDR81 gene on chromosome 17p13.3 have been linked to cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome-2 (CAMRQ2), a rare disorder characterized by congenital cerebellar ataxia (a condition causing impaired coordination and balance due to cerebellar dysfunction), intellectual disability, and gait abnormalities. This evidence concerns the gene WDR81 and aceruloplasminemia.