Global Variome shared LOVD

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Phenotype #0000124610 Individual ID 00152267 Associated disease WWS Phenotype details encephalocele, pachygyria/agyria; on MRI, large ventricles, cerebellar vermis hypoplasia/aplasia, corpus callosum hypoplasia, cataract; one bilateral microtia; CPK markedly raised Diagnosis/Initial Walker-Warburg syndrome Inheritance Isolated (sporadic) Diagnosis/Definite MDDGA-1 Age/Examination - 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 2006-05-14 11:10:20 +02:00 (CEST) Date last edited 2012-03-04 16:10:17 +01:00 (CET)

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