Global Variome shared LOVD

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Phenotype #0000028842 Individual ID 00038299 Associated disease RD Phenotype details Generalized retinal dystrophy, bone-spicule pigmentation at mid-peripheral retina Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset onset early childhood, poor vision, 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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