Global Variome shared LOVD

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Phenotype #0000291677 Individual ID 00397525 Associated disease CMT Phenotype details see paper; ..., distal lower limb muscle weakness (HP:0009053); Upper limb muscle weakness (HP:0003484); Steppage gait (HP:0003376); Distal sensory loss (HP:0002936) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT1D Age/Examination 52y (52 years) Age/Diagnosis 52y Age/Onset 20y Phenotype/Onset distal lower limb muscle weakness (HP:0009053) Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2021-12-23 11:27:31 +01:00 (CET) Date last edited 2022-01-06 14:21:34 +01:00 (CET)

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