Phenotype #0000002862

Individual ID 00004068
Associated disease MDDGA7
Phenotype details Walker-Warburg syndrome (WWS); MRI hydrocephalus with marked thinning cortex, cobblestone lissencephaly, brain stem atrophy; bilateral microphthalmia with cataract, persistent hyperplastic primary vitreous, retinal detachment
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
CK-level 5400
Protein DAG1 IIH6 negative
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 2012-05-20 10:48:47 +02:00 (CEST)
Date last edited N/A

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