Global Variome shared LOVD

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Phenotype #0000243128 Individual ID 00324619 Associated disease CMT Phenotype details first signs lower limbs before upper limbs, lower limbs and hand weakness; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs and upper limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 36.5m/s Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-20 15:38:25 +01:00 (CET) Date last edited N/A

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