Phenotype #0000054806

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00075031
Associated disease	STGD1
Phenotype details	Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	unknown
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2016-02-22 12:22:09 +01:00 (CET)
Date last edited	N/A