Global Variome shared LOVD

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Phenotype #0000259853 Individual ID 00364515 Associated disease - Phenotype details At the age of 67 visual acuity was 0.6 (right eye) and 0.04 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation moderately reduced. Central amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades. Diagnosis/Initial cone-rod dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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