Global Variome shared LOVD

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

Phenotype #0000057525 Individual ID 00077750 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ABCA4-related retinal disease; y48: visual acuity OD 3.0(LogMAR), OS 3.0(LogMAR), extensive atrophic-appearing changes of the retinal pigment epithelium (RPE) throughout the posterior pole, extending beyond the vascular arcades. Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 9y Phenotype/Onset visual loss or the age at the latest examination for patients who were asymptomatic Protein - Tumor/MSI - Diagnosis/Criteria - 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.