Global Variome shared LOVD
RNASEH2B (ribonuclease H2, subunit B)
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Curator:
Lisanne Vijfhuizen
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Phenotype #0000353675
Individual ID
00468523
Associated disease
CTRCT
Phenotype details
thin cataract, fibrotic nuclear cataract; symmetrical opacities; adherent corneal leukoma, aniridia, macular hypoplasia, nystagmus, developmental delay ; Wilms tumor, aniridia, genitourinary anomalies, mental retardation
Diagnosis/Initial
bilateral cataract
Inheritance
Isolated (sporadic)
Diagnosis/Definite
WAGR
Age/Examination
-
Age/Diagnosis
-
Age/Onset
01y06m
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 10:53:45 +01:00 (CET)
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