Interestingly, on the level of specific organs, EPG5-related Vici syndrome may feature both congenital defects as well as disease acquired later in life (for example, congenital heart defects and cardiomyopathy later in life, structural central nervous system [CNS] thyroid agenesis and hypothyroidism in a normally formed thyroid), emphasizing the crucial role of normal autophagy for both organ development and maintenance. Here, EPG5 is linked to Vici syndrome.