Phenotype #0000124836

Individual ID 00152493
Associated disease WWS
Phenotype details Brain and ocular involvement; tower skull deformity; CPK 2000; onset neonatal
Diagnosis/Initial Walker-Warburg syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite MDDGA-2
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset severe neonatal hypotonia
Protein -
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-02-27 14:46:24 +01:00 (CET)
Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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