Global Variome shared LOVD

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Phenotype #0000315345 Individual ID 00424150 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/250, 20/800; refraction spherical equivalent right, left eye: -2.75 , -2.25; fundus autofluorescencecentral hypofluorescence with peripheral patchy-like hypofluorescence Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-18 10:16:39 +01:00 (CET) Date last edited N/A

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