IBA57 and Fatal multiple mitochondrial dysfunction syndrome type 2: Second, mutations in human IBA57 have been implicated in neurological diseases such as spastic paraplegia 74 (OMIM 615316) and multiple mitochondrial dysfunctions syndrome 3 (MMDS3, OMIM 615330) (Ajit Bolar et al., 2013; Debray et al., 2015; Lossos et al., 2015; Ishiyama et al., 2017; Lebigot et al., 2017; Torraco et al., 2017; Hamanaka et al., 2018; Liu et al., 2018).