Global Variome shared LOVD

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

Phenotype #0000054802 Individual ID 00075027 Associated disease STGD1 Phenotype details Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International 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.