Normal neuroimaging was observed in 12 (6.9%) individuals [29, 35, 47, 77, 78, 94], including individuals with galactose-1-phosphate uridylyltransferase deficiency, SUCLG1 deficiency, Lesch-Nyhan syndrome, OPA3 deficiency, phosphatidylserine flippase deficiency, and Birk-Landau-Perez syndrome. Here, OPA3 is linked to Lesch-Nyhan syndrome.