SLC25A46 and polyneuropathy: Microcephaly and Neural Tube closure defects: SLC25A19 OMIM 607196 (Rosenberg et al., 2002; Lindhurst et al., 2006) Neuropathy: Progressive polyneuropathy – SLC25A19 OMIM 613710 (Spiegel et al., 2009); Charcot-Marie-Tooth Disease – SLC25A46 OMIM 616505 (Abrams et al., 2015; Charlesworth et al., 2016; Janer et al., 2016; Wan et al., 2016)