Some of our cohorts involved comparison of diseases with well-known phenotypic differences; for instance, we compared Spastic paraplegia 78, autosomal recessive (MIM: 617225) and Kufor-Rakeb syndrome (MIM: 606693), both of which are caused by variants in ATP13A2 (MIM: 610513), and showed a significantly higher frequency of Parkinsonism (HP:0001300) and Bradykinesia (HP:0002067) in the individuals with Kufor-Rakeb syndrome (Figure S8). The gene discussed is ATP13A2; the disease is parkinsonism due to ATP13A2 deficiency.