Global Variome shared LOVD

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Phenotype #0000002861 Individual ID 00004067 Associated disease MDDGA7 Phenotype details Walker-Warburg syndrome (WWS); MRI hydrocephalus, cobblestone lissencephaly, beaded subcortical heterotopia, thin corpus callosum, increased white matter signal, brainstem hypoplasia, cerebellar hypoplasia; bilateral microphthalmia, cataracts, arrested retinal development Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - CK-level 3000-13000 Protein DAG1 IIH6 negative Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-20 10:48:47 +02:00 (CEST) Date last edited N/A

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