Global Variome shared LOVD

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Phenotype #0000232753 Individual ID 00306930 Associated disease CMT Phenotype details see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; intellectual disability (IQ65); leukoaraiosis brain atrophy spinal cord atrophy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset gait disturbance 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 09:59:44 +02:00 (CEST) Date last edited N/A

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