Phenotype #0000124715

Individual ID 00152372
Associated disease WWS
Phenotype details Hypotonia, hydrocephalus, brain and ocular changes; CPK 4755
Diagnosis/Initial Walker-Warburg syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite MDDGA-1
Age/Examination -
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset in utero
Protein IHC abnormal DAG1
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 2008-08-13 17:44:31 +02:00 (CEST)
Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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