Global Variome shared LOVD

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Phenotype #0000347009 Individual ID 00458578 Associated disease RS1 Phenotype details see paper; ..., strabismus; initial visual acuity no light perception = 3/light perception = 2,7; final visual acuity no light perception  = 3/light perception  = 2,7; no foveal schisis; no macular atrophy; no peripheral schisis; no vitreal veils; bilateral retinal dystrophy Diagnosis/Initial retinoschisis Inheritance Unknown Diagnosis/Definite RS1 Age/Examination 2y (2 years) Age/Diagnosis 1y 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 2024-12-19 09:29:11 +01:00 (CET) Date last edited N/A

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