EPG5 and Vici syndrome: Here, we studied nine patients with VICIS from seven families and identified 14 causative mutations in EPG5. Skin fibroblasts (SFs) from VICIS patients and EPG5 knock-down (KD) and KO HeLa cells demonstrated normal endocytic function, but impaired autophagic function due to defects in autophagosome-lysosome fusion.