Global Variome shared LOVD

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

Phenotype #0000054868 Individual ID 00075093 Associated disease CORD Inheritance Isolated (sporadic) Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset <18y Phenotype/Onset loss of central vision Phenotype details cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Central chorioretinal atrophy. Granular changes at midperiphery. 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.