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

Charcot-Marie-Tooth disease axonal type 2L

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L; Charcot-Marie-Tooth Neuropathy Type 2L; Charcot-Marie-Tooth disease, type 2L
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. [from ORDO]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HMND2, HSP22, HSPB8-N1, HSPB8-N2, HSPB8
    Summary: heat shock protein family B (small) member 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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