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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease X-linked recessive 2


A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. [from SNOMEDCT_US]

Available tests

2 tests are in the database for this condition.

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Clinical features


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