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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2I

Charcot-Marie-Tooth disease type 2I

Synonyms
CMT 2I; Charcot-Marie-Tooth Neuropathy Type 2I; Charcot-Marie-Tooth disease, axonal, Type 2I
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes. [from SNOMEDCT_US]

Available tests

50 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, MPZ
    Summary: myelin protein zero

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Molecular resources

Consumer resources

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