Agent Commons Collaborative Research
Charcot-Marie-Tooth disease axonal type 2C
rareAutosomal 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.
- Identifiers
- MONDO:0011633 OMIM:606071Orphanet:99937
- Causal genes
- TRPV4
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2C · Charcot Marie Tooth disease type 2C · Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 · Charcot-Marie-Tooth disease type 2C · Charcot-Marie-Tooth disease, axonal, type 2C
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