Global Variome shared LOVD

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Phenotype #0000232778 Individual ID 00306958 Associated disease CMT Phenotype details height SD -2.29, weight SD -2.35, OFC SD 0.09; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; growth hormone deficiency; hypotonia, weakness, hyporeflexia, ataxia, action tremor; MRI brain 3y-normal; duplicated collecting system Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2Z Age/Examination 5y7m (5 years, 7 months) Age/Diagnosis - 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 2020-07-24 12:53:42 +02:00 (CEST) Date last edited N/A

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