Phenotype #0000002855

Individual ID 00004061
Associated disease MDDGA7
Phenotype details Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; left microphthalmia, bilateral retinal detachment, choroidal abnormalities; left congenital cataract; bilateral glaucoma; muscular dystrophy, hypotonia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
CK-level 5,725
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 2012-05-20 10:48:47 +02:00 (CEST)
Date last edited 2012-05-20 10:51:03 +02:00 (CEST)

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