Global Variome shared LOVD

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Phenotype #0000123850 Individual ID 00151480 Associated disease MDC Phenotype details no contractures, no hypertrophy, spine unaffected, generelaised limb weakness, eyes unaffected, white matter mild abnormality, hypothyroid; no microcephaly, no eye involvement; CPK level 3200; no intellectual disability (-HP:0001249); able to sit Diagnosis/Initial muscular dystrophy, congenital Diagnosis/Definite MDDGB-4 Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 3y 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 2008-01-27 16:39:30 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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