Phenotype #0000057565

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00077790
Associated disease	STGD1
Phenotype details	Stargardt disease; y46: Visual acuity OD -0.1 logMAR, OS -0.1 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, normal ERGs with or without PERG P50 abnormality.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	46y
Phenotype/Onset	visual loss or the latest examination for asymptomatic patients.
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.