Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
MONDO:0011909
Charcot-Marie-Tooth disease dominant intermediate D
is_a
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2I
related
CMT2I
exact
Charcot Marie Tooth disease type 2I
related
Charcot-Marie-Tooth disease, axonal, type 2I
related
Charcot-Marie-Tooth disease, type 2I
exact