Global Variome shared LOVD

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

Phenotype #0000055530 Individual ID 00075755 Associated disease CORD Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset <19y Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/280, OS 20/240, beaten metal in the macula, bone-spicule pigment 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

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