Phenotype #0000002850

Individual ID 00004056
Associated disease MDDGA7
Phenotype details Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); neonatal death; cobblestone lissencephaly; hydrocephalus; hypoplasia; encephalocele; cerebellar abnormalities; brainstem kinking; right microphthalmia; bilateral cloudy cornea; left shallows; muscular dystrophy, hypotonia
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
CK-level 104769
Protein DAG1 reduced
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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