Phenotype #0000187822

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248855
Associated disease	EVR7
Diagnosis/Initial	FEVR
Diagnosis/Definite	FEVR
Phenotype details	Presented at 11 years of age with very low vision. Fundus examination showed retinal avascularity, exudation, retinal holes, and bilateral retinal detachment, for which he underwent buckle surgery in both eyes
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Carmel Toomes
Database submission license	No license selected
Created by	Carmel Toomes
Date created	2019-07-29 19:09:59 +02:00 (CEST)
Date last edited	N/A

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