Global Variome shared LOVD

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

Phenotype #0000353674 Individual ID 00468522 Associated disease CTRCT Phenotype details thin cataract, fibrotic nuclear cataract; symmetrical opacities; adherent corneal leukoma, aniridia, macular hypoplasia, nystagmus, Wilms tumor,; surface thin lens touches corneal endothelium, corneal neovascularization, glaucoma, nanophthalmos, atrial septal defect, developmental delay Diagnosis/Initial bilateral cataract Inheritance Isolated (sporadic) Diagnosis/Definite WAGR Age/Examination - Age/Diagnosis - Age/Onset 01y11m 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 2025-11-09 20:53:28 +01:00 (CET) Date last edited 2025-11-10 10:47:23 +01:00 (CET)

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