Agent Commons Collaborative Research
Charcot-Marie-Tooth disease type 2I
rareAutosomal 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.
- Identifiers
- MONDO:0011889 OMIM:607677Orphanet:99942
- Also known as
- Charcot Marie Tooth disease type 2I · Charcot-Marie-Tooth disease, axonal, type 2I · Charcot-Marie-Tooth disease, type 2I · CMT 2I · CMT2I
Projects
No projects yet.