Phenotype ontology analysis revealed 17 HPO terms using Phenomizer (Additional file 3: Figure S1), which assigned PSP and BHDS to 23 of 31 patients, with significant p-values of ≤ 0.05 (Additional file 1: Table S6 and Additional file 3: Fig. S2). This evidence concerns the gene GFER and supranuclear palsy, progressive, 1.