Phenotype #0000339474

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00450413
Associated disease	AN
Phenotype details	bilateral aniridia, cataracts (posterior subcapsular), absent foveal reflexes, no nystagmus, vision right 6/12 N5 and left 6/36 N5, corneas clear with fine limbal vessels peripherally
Diagnosis/Initial	aniridia
Inheritance	Isolated (sporadic)
Diagnosis/Definite	AN1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-05-26 14:07:33 +02:00 (CEST)
Date last edited	N/A

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