Global Variome shared LOVD

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Phenotype #0000305061 Individual ID 00413080 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/20 OS 20/25-2; color (Ishihara plates): both eyes: 10/10; Goldmann visual field: mild nasal constriction; fundus: bull's eye retinal pigment epithelium atrophy in macula; electroretinogram: decreased cone-and rod responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination 43y (43 years) Age/Diagnosis 30y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-11 12:14:39 +02:00 (CEST) Date last edited N/A

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