Global Variome shared LOVD

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Phenotype #0000303152 Individual ID 00411062 Associated disease - Phenotype details VA: 0.2/0.2; RPE dystrophy at the mid-periphery with clumped pigment.Opaque, dendritic appearance of peripheral vessels in both eyes. In the left eye peripheral retinoschisis at inferior sectors. Vitreous opacities in both eyes ; Preserved FAF at the posterior pole in both eyes ; Diagnosis/Initial NR2E3-related retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +02:00 (CEST) Date last edited N/A

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