Global Variome shared LOVD

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Phenotype #0000232758 Individual ID 00306938 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, cramps, claw hand, not standing on heels Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 14y 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 12:16:45 +02:00 (CEST)

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