Charcot-Marie-Tooth disease recessive intermediate B (Monarch Disease Ontology id MONDO_0013338) can be described as follows. Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. Also known as: CMTRIB, Charcot-Marie-Tooth disease caused by mutation in KARS, Charcot-Marie-Tooth disease recessive intermediate type B, Charcot-Marie-Tooth disease, recessive Intermediate type B, Charcot-Marie-Tooth neuropathy recessive intermediate B, KARS Charcot-Marie-Tooth disease, RI-CMT type B, RI-CMTB.