ACADS and Global developmental delay: Of note, we found three missense variants in the ACADS gene R107C (rs61732144), R171W (rs1800556), and G209S (rs1799958) (Tables S1 and S2) that were initially reported (Corydon et al. 2001; Pedersen et al. 2008) in 10 patients with ethylmalonic aciduria and short-chain acyl-CoA dehydrogenase (SCAD) deficiency, a mitochondrial fatty acid oxidation disorder causing neuromuscular phenotypes with hypotonia and developmental delay as the prominent features of the disease.