Global Variome shared LOVD

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Phenotype #0000347619 Individual ID 00459543 Associated disease RD Phenotype details see paper; ..., visual acuity no light perception right eye (OD), 6/18 left eye; 5y- spontaneous retinal detachment right Diagnosis/Initial neurodevelopmental delay Inheritance Familial, X-linked recessive Diagnosis/Definite RS1 Age/Examination 7y (7 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 2025-01-09 16:10:04 +01:00 (CET) Date last edited N/A

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