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Charcot-Marie-Tooth disease axonal type 2O | RareConnect | RareConnect.io

/Charcot-Marie-Tooth disease type 2

/Charcot-Marie-Tooth disease axonal type 2O

Charcot-Marie-Tooth disease axonal type 2O

Rare Disease

MONDO:0013644

Also Known As

CMT2OCharcot-Marie-Tooth disease caused by mutation in DYNC1H1Charcot-Marie-Tooth disease, axonal, type 20Charcot-Marie-Tooth neuropathy axonal type 2ODYNC1H1 Charcot-Marie-Tooth diseaseautosomal dominant Charcot-Marie-Tooth disease type 2Oautosomal dominant axonal Charcot-Marie-Tooth disease type 2OCharcot-Marie-Tooth disease type 2OCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2OCharcot-Marie-Tooth disease, axonal, type 2OCharcot-Marie-Tooth neuropathy, axonal, type 2O

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614228 ↗

Orphanet

Orphanet:284232 ↗

GARD

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