The Online Mendelian Inheritance in Man database (OMIM) contains only one described phenotype of the VPS13D gene dysfunction: spinocerebellar ataxia, autosomal recessive 4 (SCAR4; OMIM #607317) (for date 24 April 2024). This evidence concerns the gene VPS13D and Autosomal recessive cerebellar ataxia - saccadic intrusion.