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Autosomal dominant Charcot-Marie-Tooth disease type 2M

MONDO:0016431

A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.

Also known as: CMT2M

9 clinical trials for this condition and its sub-types, 1 tagged with Autosomal dominant Charcot-Marie-Tooth disease type 2M itself.

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