Our ES approach revealed pathogenic, likely pathogenic and VUS variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1 (BZRAP1), AOPEP (C9orf3)) as well as in the uncommonly dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN) (table 2). Here, ALDH5A1 is linked to Dystonia.