Global Variome shared LOVD

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Phenotype #0000316138 Individual ID 00424939 Associated disease RP Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite - Phenotype details hearing impairment, 48y-vision problems; 60y-nyctalopia; retinitis pigmentosa myopia, history left eye cystoid macular oedema, 55y-epiretinal membrane peeling; 8y-hearing impairmen, minor pericardial effusion (asymptomatic) Inheritance Familial, autosomal recessive Age/Examination 79y (79 years) Age/Diagnosis - Age/Onset 08y 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 16:40:00 +01:00 (CET) Date last edited N/A

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