Global Variome shared LOVD

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Phenotype #0000002854 Individual ID 00004060 Associated disease MDDGA7 Phenotype details Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; partial agenesis; encephalocele; cerebellar abnormalities; brainstem kinking; microphthalmia, no retinal abnormalities; congenital cataract; persistent hyperplastic primary vitreous; Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - CK-level - Protein - 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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