Global Variome shared LOVD

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Phenotype #0000296442 Individual ID 00403746 Associated disease - Phenotype details visual acuity: 6/350, 20/400, fundoscopy macula: cystic lesions with scarring and yellow flecks, periphery: yellow white spots along the arcades, electrooculogram: right: 1.11, left: 1.30, electroretinogram: scotopic responses below normal, normal photopic responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, macular, vitelliform Age/Examination 39y (39 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 2022-02-21 13:54:28 +01:00 (CET) Date last edited N/A

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