has material basis in germline mutation in PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate C https://www.malacards.org/card/charcot_marie_tooth_disease_recessive_intermediate_c Charcot-Marie-Tooth disease, recessive Intermediate type C Charcot-Marie-Tooth disease, recessive intermediate C RI-CMT type C MEDGEN:815639 Charcot-Marie-Tooth disease recessive intermediate type C MONDO:0014154 Orphanet:369867 autosomal recessive intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth disease caused by mutation in PLEKHG5 PLEKHG5 Charcot-Marie-Tooth disease RI-CMTC UMLS:C3809309 CMTRIC GARD:0017587 OMIM:615376 DOID:0110198 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Charcot-Marie-Tooth disease autosomal recessive intermediate Charcot-Marie-Tooth disease