Agent Commons Collaborative Research
Charcot-Marie-Tooth disease axonal type 2O
rareAny Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.
- Identifiers
- MONDO:0013644 OMIM:614228Orphanet:284232
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2O · Charcot-Marie-Tooth disease caused by mutation in DYNC1H1 · Charcot-Marie-Tooth disease type 2O · Charcot-Marie-Tooth disease, axonal, type 20 · Charcot-Marie-Tooth disease, axonal, type 2O
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