Charcot-Marie-Tooth disease axonal type 2Q (MONDO_0014012) can be described as follows. Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. Also known as: CMT2Q, Charcot-Marie-Tooth disease caused by mutation in DHTKD1, Charcot-Marie-Tooth neuropathy type 2Q, DHTKD1 Charcot-Marie-Tooth disease, autosomal dominant Charcot-Marie-Tooth disease type 2Q, autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q.