Global Variome shared LOVD

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Phenotype #0000308436 Individual ID 00416925 Associated disease EVR2 Phenotype details full term pregnancy, born to healthy non-consanguinous parents with an uncomplicated delivery; ophthalmic examinalion: retinal fold extending towards the retinal periphery, an intravitreous fibrous mass and membrane, vitreous detachment and peripheral exudates at the junction between the avascular and vascular retina; no exposure to supplemental oxygen Diagnosis/Initial - Inheritance Familial, X-linked 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 2022-09-10 20:47:00 +02:00 (CEST) Date last edited N/A

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