Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2D
related
CMT2D
exact
Charcot Marie Tooth disease type 2D
related
Charcot-Marie-Tooth disease type 2 caused by mutation in GARS
exact
Charcot-Marie-Tooth disease, axonal, type 2D
related
Charcot-Marie-Tooth disease, type 2D
exact
GARS Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2D
exact
SPAC3F10.03