Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
MONDO:0011909
Charcot-Marie-Tooth disease dominant intermediate D
is_a
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2J
related
CMT2J
exact
Charcot Marie Tooth disease type 2J
related
Charcot-Marie-Tooth disease, axonal, type 2J
related
Charcot-Marie-Tooth disease, type 2J
exact