Global Variome shared LOVD

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Phenotype #0000023257 Individual ID 00027186 Associated disease CNM Phenotype details hypotonia since birth, dilated cardiomyopathy and nephrolithiasis, orogastric feeds, no assisted ventilation; myopathic changes; variation in fiber size, more prominent in some fascicles, increased central nuclei in hypotrophic fibers, predominant type 1 fibers Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y06m (1 year, 6 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 2014-12-24 13:31:45 +01:00 (CET) Date last edited N/A

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