Less frequently, variants in heterozygosity were found in RPE65 (n = 21, 0.53%), GAA (n = 20, 0.50%), BTD (n = 15, 0.38%), and TRDN (n = 12, 0.30%), associated with RPE65-related retinopathy, Pompe disease, biotinidase deficiency, and catecholaminergic polymorphic ventricular tachycardia. Here, RPE65 is linked to biotinidase deficiency.