Global Variome shared LOVD

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Phenotype #0000124227 Individual ID 00151864 Associated disease CMT Phenotype details 1y4m-walking, distal weakness mild in lower extremities, mild distal muscle atrophy, no foot deformity, no distal sensory loss, no scoliosis, absent reflexes upper/lower extremities Diagnosis/Initial Charcot-Marie-Tooth disease (CMT) Inheritance Familial, autosomal recessive Diagnosis/Definite CMT-4H Age/Examination 11y (11 years) Age/Diagnosis 09y Age/Onset - 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 2012-11-05 15:13:21 +01:00 (CET) Date last edited 2018-01-27 17:03:02 +01:00 (CET)

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