Moreover, a patient heterozygous for a deletion of exons 7 and 8 and a second pathogenic missense allele, c.494G>A; p.(Gly165Glu), in CLN3 was reassessed as affected with protracted juvenile neuronal ceroid lipofuscinosis (JNCL) (detailed clinical traits in Table S1). The gene discussed is CLN3; the disease is juvenile neuronal ceroid lipofuscinosis.