Our report extends the phenotypic spectrum of VARS2-related disorders in the context of EE, severe neurodevelopmental delay, abnormal brain MRI scan, and one novel frameshift mutation (c.603_606dupGATG; p.Arg203Aspfs*37) in VARS2 (NM_001167734.1). The gene discussed is VARS2; the disease is ethylmalonic encephalopathy.