ATP13A2 and Kufor-Rakeb syndrome: Some of our cohorts involved comparison of diseases with well known phenotypic differences; for instance, we compared Spastic paraplegia 78 (SPG78) and Kufor-Rakeb syndrome (KRS), both of which are caused by variants in ATP13A2, and showed a significantly higher frequency of Parkinsonism (HP:0001300) and Bradykinesia (HP:0002067).