Global Variome shared LOVD

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Phenotype #0000255396 Individual ID 00359991 Associated disease - Phenotype details Fundus: waxy pallor of optic disc along with arteriolar narrowing and bull’s eye pattern macular atrophy involving the fovea. OCT: atrophy of the outer retinaRPE-choriocapillaries complex in both eyes with subretinal depositions mainly in the fovea. Diagnosis/Initial Leber congenital amaurosis Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Low vision, jerky nystagmus, photophobia along with nyctalopia Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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