Phenotype #0000123816

Individual ID 00151380
Associated disease WWS
Phenotype details hydrocephalus, Dandy-Walker malformation, retinal dysplasia, severe hypotonia, seizures; MRI typical WWS (ventricular enlargement, diffuse widening gyri, disorganization cortical sulci with areas of cobblestone lissencephaly along posterior aspects occipital lobes/temporal lobes; affected brain stem/cerebellum; CPK level 3180 u/L
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2018-01-19 17:23:25 +01:00 (CET)
Date last edited N/A

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