Global Variome shared LOVD

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Phenotype #0000028841 Individual ID 00038298 Associated disease RD Phenotype details Generalized retinal dystrophy, macular nummular pigmentation, yellowish crystalline-like spots in midperipheral retina, bone-spicule pigmentation at mid-peripheral retina, non-detectable ERG Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y Phenotype/Onset nystagmus 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 N/A

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