Global Variome shared LOVD

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Phenotype #0000347143 Individual ID 00458712 Associated disease RS1 Phenotype details see paper; ..., 9y-bilateral visual loss; mild-moderate impairment visual acuity; bilateral foveal schisis, normal a-wave, reduction b-wave amplitudes in dark- and light- adapted full-field electroretinograms, abnormal oscillatory potentials; diffuse amplitude reduction in multifocal electroretinogram arrays Diagnosis/Initial retinoschisis Inheritance Familial, X-linked recessive Diagnosis/Definite RS1 Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 09y 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 2024-12-19 21:39:28 +01:00 (CET) Date last edited N/A

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