A novel GBA1 mutation genotype (c.787–788 delAA, p.L263V fs*9; c.1448T > C, p.L483P) was identified in a patient who initially presented with neurological disorders at an early stage; motor development retardation onset occurred at 2 months, followed by a rapid disease progression that culminated in the patient's death within only 6 months. The gene discussed is GBA1; the disease is nervous system disorder.