has material basis in germline mutation in YARS1 Charcot-Marie-Tooth disease dominant intermediate C https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_c OMIM:608323 MEDGEN:334023 CMTDIC Charcot-Marie-Tooth disease, dominant Intermediate type C SCTID:765746008 DI-CMTC Charcot-Marie-Tooth disease, dominant intermediate C autosomal dominant intermediate Charcot-Marie-Tooth disease type C UMLS:C1842237 GARD:0012439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. MESH:C564257 Charcot-Marie-Tooth disease caused by mutation in YARS MONDO:0012012 DOID:0110199 YARS Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate type C YARS-related intermediate Charcot-Marie-Tooth neuropathy Orphanet:100045 Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease