Global Variome shared LOVD

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

Phenotype #0000057746 Individual ID 00077971 Associated disease - Phenotype details retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9. Diagnosis/Initial retinitis pigmentosa Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 27y Phenotype/Onset poor night vision, flashing 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 2020-08-25 10:48:31 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.