Global Variome shared LOVD

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

Phenotype #0000054573 Individual ID 00074798 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Tumor/MSI - Diagnosis/Criteria - 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.