ELAC2 and Global developmental delay: Apart from our patient, the oldest surviving patient is a 19-year-old patient with severe developmental delay and inability to walk.2 There was no dysmorphism or microcephaly, as have been reported with ELAC2 mutations.1,2 Accumulation of unprocessed mitochondrial transcripts and impaired fibroblast growth on galactose support pathogenicity for the ELAC2 variants we report.