Phenotype #0000002859
Individual ID |
00004065 |
Associated disease |
MDDGA7 |
Phenotype details |
Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; no microphthalmia, retinal dysgenesis; ; muscular dystrophy, hypotonia |
Diagnosis/Initial |
- |
Inheritance |
Isolated (sporadic) |
Diagnosis/Definite |
- |
Age/Examination |
- |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
CK-level |
2,500 |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
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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