Global Variome shared LOVD

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

Phenotype #0000305776 Individual ID 00413811 Associated disease - Phenotype details VA(RE-LE): 6/18–3/60; Extensive RPE atrophy and areas of pigmentation LE . RE ; Bilateral decreased AF centrally with a surrounding ring of relative increased; Markedly reduced cone and rod responses ; Absent PERG; Bilateral mild protan, deutan and tritan defects Diagnosis/Initial cone-rod dystrophy (CORD7) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 14y 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.