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

/Charcot-Marie-Tooth disease type 2

/Charcot-Marie-Tooth disease axonal type 2T

Charcot-Marie-Tooth disease axonal type 2T

Rare Disease

MONDO:0014866

Also Known As

CMT2TCharcot-Marie-Tooth disease, axonal, type 2TCharcot-Marie-Tooth neuropathy type 2TDNAJB2-related CMT2AR-CMT2TCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2TCharcot-Marie-Tooth neuropathy, type 2TDNAJB2-related Charcot-Marie-Tooth disease type 2autosomal recessive axonal Charcot-Marie-Tooth disease type 2T

Definition

A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.

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:616233 ↗OMIM:617017 ↗

Orphanet

Orphanet:443950 ↗

GARD

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