Global Variome shared LOVD

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Phenotype #0000305237 Individual ID 00413256 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; electro-oculogram: normal; electroretinograms: pattern: absent, rod: normal, bright white flash: normal for age, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: decreased, OFF: decreased Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone dystrophy Age/Examination 88y (88 years) Age/Diagnosis - Age/Onset 31y 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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