Previous reports of NAGA-deficiency show heterogenous presentations ranging from infantile-onset neuroaxonal dystrophy (Schindler disease type I, MIM 609241) to an adult-onset disorder characterised by angiokeratoma corporis diffusum and mild intellectual impairment (Schindler disease type II, also known as Kanzaki disease MIM 609242) [70]. This evidence concerns the gene NAGA and alpha-N-acetylgalactosaminidase deficiency type 2.