Global Variome shared LOVD

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Phenotype #0000347479 Individual ID 00459400 Associated disease RS1 Phenotype details see paper; ..., BVCA (R/L) 0.3/0.03; foveo‐lamellar schisis/foveo‐lamellar schisis plus peripheral schisis; schisis right inner nuclear layer/outer nuclear layer/outer plexiform layer/ganglion cell layer, left inner nuclear layer/outer nuclear layer; left vitreous veils and retinal pigment epithelial alteration or mottling Diagnosis/Initial retinoschisis Inheritance Familial, autosomal recessive Diagnosis/Definite RS1 Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-24 15:45:13 +01:00 (CET) Date last edited N/A

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