Global Variome shared LOVD

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Phenotype #0000028425 Individual ID 00037882 Associated disease - Phenotype details Light perception, pale papilla, constricted arterioles, salt and pepper pigmentation in mid periphery and in posterior pole, more abundant around the macula, extinguished ERG, hyperopia, nystagmus Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 15y Phenotype/Onset ? Protein - Owner name Frans Cremers Database submission license Creative Commons Attribution 4.0 International Created by Frans Cremers Date created 2015-05-01 22:00:00 +02:00 (CEST) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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