Phenotype #0000317853

Global Variome shared LOVD

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

Individual ID	00426698
Associated disease	-
Phenotype details	bull?s eye maculopathy or geographic retinal pigment epithelium atrophy with or without subretinal flecks; generalized cone dysfunction without rod involvement; central scotoma correlating with central areolar non-functional chorioretinal
Diagnosis/Initial	Stargardt disease (adSTGD)
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-12-02 14:17:29 +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.