Phenotype #0000124584

Individual ID 00152241
Associated disease WWS
Phenotype details hydrocephalus, cobblestone lissencephaly with agyria and agenesis corpus callosum, hypoplasia cerebellar vermis in posterior cranial fossa, buphthalmos, retinal dysplasia, lens opacities; CPK >3500
Diagnosis/Initial Walker-Warburg syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite MDDGA-1
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 2006-05-14 14:34:02 +02:00 (CEST)
Date last edited 2012-03-10 10:37:27 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.