Global Variome shared LOVD

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Phenotype #0000308675 Individual ID 00417165 Associated disease EVR1 Phenotype details presented to the clinic as an emergency case with a left macula-off rhegmatogenous retinal detachment (successfully repaired); inadequate vascularization of the peripheral temporal retina; best corrected visual acuity right, left eye: 6/9, 6/ 12-1 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite familial exudative vitreoretinopathy Age/Examination - 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 2022-09-13 15:10:40 +02:00 (CEST) Date last edited N/A

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