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GTR Home > Conditions/Phenotypes > Autosomal dominant Charcot-Marie-Tooth disease type 2W

Autosomal dominant Charcot-Marie-Tooth disease type 2W

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

Summary

Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2W, HARS, HRS, USH3B, HARS1
    Summary: histidyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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