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Up to: Charcot-Marie-Tooth disease type 2 · Charcot-Marie-Tooth disease dominant intermediate B

Autosomal dominant Charcot-Marie-Tooth disease type 2M

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.

1 trial tagged with this condition →

This condition has no sub-types.