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

Charcot-Marie-Tooth disease axonal type 2F

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

Summary

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop. [from SNOMEDCT_US]

Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2F, HEL-S-102, HMN2B, HMND3, HS.76067, HSP27, HSP28, Hsp25, SRP27, HSPB1
    Summary: heat shock protein family B (small) member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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