Global Variome shared LOVD

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Phenotype #0000082298 Individual ID 00104366 Associated disease RSMD Phenotype details congenital fiber–type dysproportion; 11y-scoliosis, rigid spine syndrome, contractures in both elbows; 20y-proximal muscle weakness, no progression, walk>4000m; 12y-intermittend ventilation night; FVC 12y 56% Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y Phenotype/Onset hypotonia, motor devevelopment delay, impaired increase inweight Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-22 18:29:25 +01:00 (CET) Date last edited 2013-02-01 19:44:13 +01:00 (CET)

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