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 InternationalCreative Commons License
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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