has material basis in germline mutation in KARS1 Charcot-Marie-Tooth disease recessive intermediate B https://www.malacards.org/card/charcot_marie_tooth_disease_recessive_intermediate_b_2 Charcot-Marie-Tooth disease caused by mutation in KARS DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate type B RI-CMTB Charcot-Marie-Tooth disease, recessive intermediate B RI-CMT type B GARD:0012454 Charcot-Marie-Tooth disease, recessive intermediate, B MONDO:0013338 UMLS:C3150897 autosomal recessive intermediate Charcot-Marie-Tooth disease type B CMTRIB MEDGEN:462247 Orphanet:254334 OMIM:613641 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. KARS Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, recessive Intermediate type B Charcot-Marie-Tooth disease autosomal recessive intermediate Charcot-Marie-Tooth disease