Charcot-Marie-Tooth disease axonal type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
AARS Charcot-Marie-Tooth disease type 2
exact
CMT2N
exact
Charcot-Marie-Tooth disease type 2 caused by mutation in AARS
exact
Charcot-Marie-Tooth disease type 2N
related
Charcot-Marie-Tooth disease, axonal, type 2N
related
autosomal dominant Charcot-Marie-Tooth disease type 2N
exact
SPAC23C11.09