Global Variome shared LOVD

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

Phenotype #0000259844 Individual ID 00364506 Associated disease - Phenotype details Diagnosis of CRD was based in initial complaints of blurred central vision without a history of night blindness, poor visual acuity, impairment of colour vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude. At the age of 27 the visual acuity was 0.9 OD an d 0.7OS. Diagnosis/Initial cone-rod dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 15y Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +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.