Charcot-Marie-Tooth disease axonal type 2C
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.
MONDO:0002316
motor peripheral neuropathy
is_a
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2C
related
CMT2C
exact
Charcot Marie Tooth disease type 2C
related
Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4
exact
Charcot-Marie-Tooth disease type 2C
related
Charcot-Marie-Tooth disease, axonal, type 2C
related
HMSN 2 C
related
HMSN2C
exact
TRPV4 Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2C
exact
hereditary motor and sensory neuropathy 2 C
related
hereditary motor and sensory neuropathy, type IIC
related