More recently the genotype–phenotype spectrum of this mitochondrial disorder has been expanded [118] but polymicrogyria, which was confirmed on neuropathological examination of the foetus’ brain, has not previously been reported in RMND1-related disorder and this, in the context of arthrogryposis, may be an early indicator of an RMND1 disorder (Additional file 1: Fig. S27). This evidence concerns the gene RMND1 and arthrogryposis.