Phenotype #0000265143

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00369805
Associated disease	-
Phenotype details	(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules.
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2021-05-03 14:25:36 +02:00 (CEST)
Date last edited	N/A

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