Global Variome shared LOVD

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

Phenotype #0000055714 Individual ID 00075939 Associated disease CORD Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 5y Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); initial complaints of blurred central vision without a history of night blindness, impairment of color vision, and funduscopic evidence of maculopathy with or without mild peripheral retinopathy, in patients with recordable ERGs, a cone–rod pattern of voltage losses was present (i.e., the photopic b-wave impairment was equal to or greater than the scotopic b-wave amplitude impairment), at age 23: OD counting fingers, OS counting fingers Protein - 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.