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Charcot-Marie-Tooth disease type 2R | RareConnect | RareConnect.io

/Charcot-Marie-Tooth disease type 2

/Charcot-Marie-Tooth disease type 2R

Charcot-Marie-Tooth disease type 2R

Rare Disease

MONDO:0014208

Also Known As

CMT2RCharcot-Marie-Tooth disease type 2 caused by mutation in TRIM2Charcot-Marie-Tooth disease type 2RCharcot-Marie-Tooth disease, type 2RCharcot-Marie-Tooth neuropathy type 2RTRIM2 Charcot-Marie-Tooth disease type 2autosomal recessive axonal Charcot-Marie-Tooth disease type 2RCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2RCharcot-Marie-Tooth disease, axonal, type 2RCharcot-Marie-Tooth neuropathy, type 2R

Definition

Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 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:615490 ↗

Orphanet

Orphanet:397968 ↗

GARD

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