Global Variome shared LOVD

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Phenotype #0000308496 Individual ID 00416985 Associated disease EVR2 Phenotype details best corrected visual acuity right/left eye: no light pursuit/0.05; optometry: not available; intraocular pressure right, left eye: (mmHg): not available, 16; cornea right, left eye: corneal opacity, normal; lens right, left eye: opacity, intraocular lens; vitreous: not available; normal; fundus: not available, chorioretinal atrophy; ultrasonography: atrophy, not available; fundus fluorescein: not available, not available Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite familial exudative vitreoretinopathy Age/Examination >18y (later than 18 years) Age/Diagnosis - Age/Onset 44y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-12 12:58:00 +02:00 (CEST) Date last edited N/A

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