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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2; CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2; CMT 4B2; Charcot-Marie-Tooth Neuropathy Type 4B2; Charcot-Marie-Tooth Neuropathy Type 4B2 (CMT4B2)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400). [from OMIM]

Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4B2, DENND7B, MTMR13, SBF2
    Summary: SET binding factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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