We argue that onset of a neurodegenerative phenotype in a patient with previous neurodevelopmental presentation should alert clinicians to a neurometabolic disease that may include EPG5 defects, in particular, if more subtle variations of previously recognized EPG5‐related features are present, including callosal dysgenesis/thinning as a milder variant of the callosal agenesis typically seen in EPG5‐related Vici syndrome. This evidence concerns the gene EPG5 and Vici syndrome.