Global Variome shared LOVD

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Phenotype #0000232757 Individual ID 00306937 Associated disease CMT Phenotype details see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, scoliosis, visual evoked potential abnormal, cramps, claw hand, standing on heels Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 11y Phenotype/Onset distal muscle weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 11:56:44 +02:00 (CEST) Date last edited 2020-07-24 12:11:08 +02:00 (CEST)

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