has material basis in germline mutation in DNM2 Charcot-Marie-Tooth disease dominant intermediate B https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_b DI-CMTB Charcot-Marie-Tooth disease, dominant intermediate B DNM2 Charcot-Marie-Tooth disease MEDGEN:338346 Charcot-Marie-Tooth disease, axonal type 2M MONDO:0011674 Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. CMTDIB OMIM:606482 Charcot-Marie-Tooth disease caused by mutation in DNM2 SCTID:765745007 Charcot-Marie-Tooth disease dominant intermediate type B CMTDI1 DOID:0110197 DNM2-related intermediate Charcot-Marie-Tooth neuropathy GARD:0012438 UMLS:C1847902 Charcot-Marie-Tooth disease, dominant Intermediate type B Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease