In SETBP1 PATH3 NPCs compared to WT NPCs 655 gene sets were significantly dysregulated (Supplementary Table 8) including: Hereditary Motor and Sensory Neuropathy Type 1; Familial Dystonia; widened subarachnoid space; minicore myopathy with external ophthalmoplegia (disorder); and Generalized Hyperkinesia. The gene discussed is SETBP1; the disease is Minicore myopathy.