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]. The gene discussed is NAGA; the disease is Angiokeratoma corporis diffusum.