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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease dominant intermediate F


CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by Soong et al., 2013). For a discussion of genetic heterogeneity of CMTDI, see 606482. [from OMIM]

Available tests

22 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMTD1F, HG2B, GNB4
    Summary: G protein subunit beta 4

Clinical features


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