Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2A
related
CMT2A
exact
CMT2A1
exact
Charcot Marie Tooth disease type 2A
related
Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B
exact
Charcot-Marie-Tooth disease type 2A
exact
Charcot-Marie-Tooth disease type 2A1
exact
Charcot-Marie-Tooth disease, axonal, type 2A
related
Charcot-Marie-Tooth disease, axonal, type 2A1
related
Charcot-Marie-Tooth disease, neuronal, type 2A
related
Charcot-Marie-Tooth disease, type 2A1
exact
HMSN IIA
related
HMSN IIA1
exact
HMSN2A1
exact
KIF1B Charcot-Marie-Tooth disease type 2
exact
hereditary motor and sensory neuropathy 2 A
related
hereditary motor and sensory neuropathy IIA1
exact