Global Variome shared LOVD

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

Phenotype #0000305775 Individual ID 00413810 Associated disease - Phenotype details VA(RE-LE): 6/6–6/6; Bilateral mild macular RPE changes; Bilateral perifoveal rings of relative increased AF; Borderline reduction ; Reduced PERG Diagnosis/Initial cone-rod dystrophy (CORD7) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-07-22 03:34:11 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.