Interestingly, the brain malformations seen in this patient are analogous to those seen with defects in cytoskeletal proteins, including tubulinopathies39, 40, 41, 42; extracellular matrix proteins, including congenital muscular dystrophies11; and inborn errors of metabolism including peroxisomal disorders,43, 44, 45 PDHc deficiency46, 47 and glutaric acid deficiency,48, 49 further supporting these potential hypotheses. The gene discussed is DNM2; the disease is peroxisomal disease.