Global Variome shared LOVD

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

Phenotype #0000027139 Individual ID 00033710 Associated disease CORD Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Phenotype details cone-rod dystrophy (HP:0000510); bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced. Protein - Owner name Monika Oldak Database submission license No license selected Created by Monika Oldak Date created 2015-02-23 21:52:49 +01:00 (CET) Date last edited 2016-06-26 21:08:13 +02:00 (CEST)

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