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Autosomal dominant Charcot-Marie-Tooth disease type 2C
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.
ORPHA:99937Classification level: Disorder
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