Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000123851 Individual ID 00151481 Associated disease WWS Phenotype details contractures, hypertrophy, spine unaffected, retinal detachment, micropthalmia, MRI hydrocephaly, cerebellar hypoplasia, white matter abnormality, brainstem involvement, dysmorphic; CPK level 7000 Diagnosis/Initial Walker-Warburg syndrome (WWS) Inheritance Unknown Diagnosis/Definite MDDGA-4 Age/Examination - Age/Diagnosis - Age/Onset <0d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-01-27 16:39:30 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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