Arg417*, CG14299, Drosophila, Drosophila melanogaster, EPG5, EPG5 mutation, EPG5 mutations, EPG5 protein, Gln336Arg, Met2242Cysfs, Vici syndrome, autophagic abnormalities, autophagy, autophagy gene, callosal agenesis, cardiomyopathy, cataracts, children, delayed myelination, developmental delay, epg5, epileptic encephalopathies, failure to thrive, hypopigmentation, hypotonia, immune dysfunction, late-, lysosomal storage disorders, microcephaly, mitochondrial abnormalities, multisystem involvement, myelinated axons, neurodegeneration, neurodegenerative, neurodegenerative disease, neurodevelopmental defect, neurodevelopmental disorders, neurodevelopmental multisystem disorder, p, p., patients, pontine hypoplasia, seizure disorder, structural abnormalities