Global Variome shared LOVD

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

Phenotype #0000259852 Individual ID 00364514 Associated disease - Phenotype details At the age of 72 visual acuity was 0.4 (right eye) and 0.5 (left eye). Full field ERG (dark / light adaptation): dark adaptation: mildly and light adaptation: moderately reduced. Central amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades. Diagnosis/Initial cone-rod dystrophy Inheritance Unknown 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 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.