Interestingly, mutations in human EPG5 (ectopic P-granules autophagy protein 5) cause a severe neurodevelopmental disease called Vici syndrome, which shares with CEDNIK many clinical manifestations in pediatric patients, such as microcephaly, brain development abnormalities, atrophy of the retina and muscle hypotonia41. The gene discussed is EPG5; the disease is Vici syndrome.