Global Variome shared LOVD

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

Phenotype #0000028862 Individual ID 00038319 Associated disease RD Phenotype details early-onset retinal dystrophy, night blindness since infancy, de-pigmentation of the retinal pigment epithelium in the mid-periphery, ERGs were reduced, scotomas in the mid-periphery, numerous clumped pigments in the mid-periphery of the retina, bone-spicule pigmentation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset ? Protein - Owner name Frans Cremers Database submission license Creative Commons Attribution 4.0 International Created by Frans Cremers Date created 2015-05-01 22:00:00 +02:00 (CEST) Date last edited N/A

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