Phenotype #0000054917

Global Variome shared LOVD

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

Individual ID	00075142
Associated disease	STGD1
Phenotype details	Stargardt disease; Atrophic appearing changes of the retinal pigment epithelium, temporal islands; At age 74: extensive atrophy of the RPE and choroid, visual acuity: OD light perception, OS light perception
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	43y
Phenotype/Onset	extensive atrophy of the RPE and choroid, visual acuity: OD 8/200, OS 5/400
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.