GTR Home > Conditions/Phenotypes > Hereditary motor and sensory neuropathy with optic atrophy

Summary

Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI See also HMSN6B (616505), caused by mutation in the SLC25A46 gene (610826) on chromosome 5q22. For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (118200). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Associated genes

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