has material basis in germline mutation in GNB4 Charcot-Marie-Tooth disease dominant intermediate F https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_f autosomal dominant intermediate Charcot-Marie-Tooth disease type F DI-CMTF Charcot-Marie-Tooth disease dominant intermediate type F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. MEDGEN:1666273 OMIM:615185 GARD:0009206 DOID:0110206 MONDO:0014074 Charcot-Marie-Tooth disease, dominant Intermediate type F UMLS:C4749463 CMTDIF Orphanet:352670 GNB4-related intermediate Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth disease, dominant intermediate F Not in the OMIM series. autosomal dominant intermediate Charcot-Marie-Tooth disease