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


A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. [from SNOMEDCT_US]

Available tests

38 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8, AARS1
    Summary: alanyl-tRNA synthetase 1

Clinical features


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