Global Variome shared LOVD

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Phenotype #0000316142 Individual ID 00424943 Associated disease RP Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite - Phenotype details 2y-hearing impairment, followed by vision problems; retinal dystrophy; 11y-unspecified chest pain, 15y-epistaxis, 17y-cardiac arrhythmia – bradycardia, 17y-syncope Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 02y 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 2022-11-23 20:31:29 +01:00 (CET) Date last edited N/A

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