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


A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia. [from SNOMEDCT_US]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

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