Phenotype #0000129688

Global Variome shared LOVD

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

Individual ID	00164651
Associated disease	STGD
Phenotype details	extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 49y-ERG cone and rod responses significantly and equally reduced
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD-1
Age/Examination	53y (53 years)
Age/Diagnosis	49y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-06-04 08:26:08 +02:00 (CEST)
Date last edited	N/A

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