At around the time when EPG5’s role in autophagy was uncovered, clinical genetics analysis revealed that recessive mutations of the gene encoding human EPG5 (hEPG5) cause Vici syndrome, a rare but severe multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency22–24. Here, EPG5 is linked to Vici syndrome.