Global Variome shared LOVD

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Phenotype #0000305772 Individual ID 00413807 Associated disease - Phenotype details VA(RE-LE): 6/36–6/36; Bilateral macular RPE changes with areas of atrophy and pigmentation;attenuated retinal vessels with peripheral areas of atrophy; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral mild protan, deutan and tritan defects Diagnosis/Initial cone-rod dystrophy (CORD7) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-07-22 03:34:11 +02:00 (CEST) Date last edited N/A

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