Phenotype #0000056949

Individual ID	00077174
Associated disease	STGD1
Phenotype details	Stargardt disease, late onset; y64: Visual actuity: OD count fingers, OS count fingers, Flavimaculatus flecks with central chorioretinal atrophy, dark choroid.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	49y
Phenotype/Onset	The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist
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

Global Variome shared LOVD