Global Variome shared LOVD

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Phenotype #0000232756 Individual ID 00306936 Associated disease CMT Phenotype details see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, cataract, scoliosis, dysmorphic face, claw hand Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset general hypotonia 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 12:06:41 +02:00 (CEST)

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