Agent Commons Collaborative Research
Charcot-Marie-Tooth disease type 2D
rareAutosomal 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.
- Identifiers
- MONDO:0011091 OMIM:601472Orphanet:99938
- Causal genes
- GARS1
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2D · Charcot Marie Tooth disease type 2D · Charcot-Marie-Tooth disease type 2 caused by mutation in GARS · Charcot-Marie-Tooth disease, axonal, type 2D · Charcot-Marie-Tooth disease, type 2D
Projects
No projects yet.