Global Variome shared LOVD

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Phenotype #0000028647 Individual ID 00038104 Associated disease RD Phenotype details early-onset retinal dystrophy, horizontal sensory nystagmus, slightly pale optic nerves, macular atrophy, and nummular pigment clumping in both eyes, diffuse drusen like deposits in the posterior pole, abnormal inner retinal lamination and loss of photoreceptors, extinguished ERG Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset low visual acuity 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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