RARS2 and pontocerebellar hypoplasia type 6: Mutations in RARS2 have been reported in patients with pontocerebellar hypoplasia type 6 (PCH6, OMIM 611523).2, 6, 7, 8, 9, 10, 11, 12 The gene encodes the mitochondrial aminoacyl‐tRNA synthetase (ARS) enzyme, arginyl transfer RNA synthetase (MIM 611524).