has material basis in germline mutation in TRPV4 motor peripheral neuropathy Charcot-Marie-Tooth disease axonal type 2C https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c https://www.malacards.org/card/hereditary_motor_and_sensory_neuropathy_type_iic Orphanet:99937 CMT 2C HMSN2C hereditary motor and sensory neuropathy 2 C Charcot-Marie-Tooth disease, axonal, type 2C Charcot-Marie-Tooth disease type 2C SCTID:717010007 Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. GARD:0001250 HMSN 2 C Charcot Marie Tooth disease type 2C UMLS:C1853710 OMIM:606071 CMT2C hereditary motor and sensory neuropathy, type IIC Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 autosomal dominant Charcot-Marie-Tooth disease type 2C TRPV4 Charcot-Marie-Tooth disease type 2 MEDGEN:342947 DOID:0110182 MONDO:0011633 Charcot-Marie-Tooth disease type 2