Phenotype #0000002858

Individual ID 00004064
Associated disease MDDGA7
Phenotype details Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; bilateral microphthalmia, hyper-plastic vitreous, optic atrophy; bilateral congenital cataract; shallow anterior chamber abnormalities; muscular dystrophy, hypotonia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
CK-level 2,790
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 10:51:59 +02:00 (CEST)

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