Global Variome shared LOVD

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Phenotype #0000298248 Individual ID 00405751 Associated disease - Phenotype details corrected distance visual acuity: 0.8 ,refraction: +2 ddc, optical coherence tomography: schisis subfoveal important, electroretinography: reduced scotopic and photopic responses, electrooculography: pathologic Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-21 18:30:03 +01:00 (CET) Date last edited N/A

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