Global Variome shared LOVD

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Phenotype #0000297315 Individual ID 00404740 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/200, 20/40, fundus findings: right eye macular scar, left eye vitelliruptive lesion, electrooculography Arden ratios: not available, electroretinography: not available Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-07 14:49:09 +01:00 (CET) Date last edited N/A

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