Charcot-Marie-Tooth disease type 2E (MONDO_0011894) can be described as follows. Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. Also known as: CMT2E, Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL, Charcot-Marie-Tooth disease, type 2E, Charcot-Marie-Tooth neuropathy type 2E, NEFL Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2E.