In two patients with clinically recognizable syndromes (i.e. Warburg Micro syndrome and Aicardi-Goutières syndrome), mutations in RAB3GAP1 (patient 1) [26] and RNASEH2B (patient 26) [24] related to these conditions were identified during their diagnostic work-up as well as by whole-exome sequencing. Here, RAB3GAP1 is linked to Aicardi-Goutières syndrome.