The ABCD1 has the greatest mutation frequency (30.8%, 4/13), followed by the EIF2B (23.1%, 3/13) and mitochondrial genes (15.4%, 2/13), which suggest the diagnosis of adrenoleukodystrophy, vanishing white matter disease and mitochondrial disease, respectively. The gene discussed is EIF2B4; the disease is adrenoleukodystrophy.