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

/Charcot-Marie-Tooth disease type 2

/Charcot-Marie-Tooth disease axonal type 2S

Charcot-Marie-Tooth disease axonal type 2S

Rare Disease

MONDO:0014511

Also Known As

CMT2SCharcot-Marie-Tooth disease caused by mutation in IGHMBP2Charcot-Marie-Tooth disease type 2SCharcot-Marie-Tooth neuropathy type 2SIGHMBP2 Charcot-Marie-Tooth diseaseautosomal recessive axonal Charcot-Marie-Tooth type 2SCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2SCharcot-Marie-Tooth disease, axonal, type 2SCharcot-Marie-Tooth neuropathy, type 2S

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 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:616155 ↗

Orphanet

Orphanet:443073 ↗

GARD

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