Global Variome shared LOVD

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Phenotype #0000123885 Individual ID 00151517 Associated disease MDC Phenotype details speech: babble, seizures, myopia, ventricular septal defect, pulmonary stenosis, diffuse white matter changes; CPK level 9208; able to roll over Diagnosis/Initial muscular dystrophy, congenital, Fukuyama type (FCMD);MEB Diagnosis/Definite MDDGA-4 Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein DAG1 reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-11-12 19:53:57 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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