Global Variome shared LOVD

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Phenotype #0000305247 Individual ID 00413266 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/60, 20/40; electro-oculogram: extinguished light rise; electroretinograms: pattern: absent, rod: amplitude decreased, implicit time normal, bright white flash: amplitude decreased, implicit time normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: increased; pathway response, ON: not performed, OFF: not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-13 11:40:59 +02:00 (CEST) Date last edited N/A

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