Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000054898 Individual ID 00075123 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; 24y retinal flecks throughout posterior pole, anterior to vascular arcades and/or nasal to optic disc, visual acuity: OD 20/200, OS 20/200 Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200 Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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