Global Variome shared LOVD

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Phenotype #0000054928 Individual ID 00075153 Associated disease CORD Inheritance Isolated (sporadic) Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); the b-wave of the photopic ERG (cone response) was more severely reduced than the b-wave of the scotopic ERG, decreased visual acuity, impaired color vision, central or paracentral scotomas, and fundoscopic evidence of maculopathy 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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