EPG5 and Vici syndrome: Homozygous or compound heterozygous mutations in the gene responsible for EPG5 (ectopic P-granules autophagy protein 5) have been found to underlie Vici syndrome, a rare autosomal recessive disorder involving agenesis of the corpus callosum, cataracts in about 76% of patients, cardiomyopathy, psychomotor delay, hypopigmentation, and combined immunodeficiency [128,129,130].