Although the primary defects in congenital disorders of autophagy do not reside directly in the lysosome, they may mimic some of the clinical features of lysosomal storage disorders (for review [180,181]), for example the coarse facial appearance seen in SNX14-related cerebellar ataxia and, occasionally, EPG5-related Vici syndrome. This evidence concerns the gene EPG5 and aceruloplasminemia.