Global Variome shared LOVD

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

Phenotype #0000054606 Individual ID 00074831 Associated disease CORD Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec) 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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