Global Variome shared LOVD

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Phenotype #0000028648 Individual ID 00038105 Associated disease RD Phenotype details early-onset retinal dystrophy, horizontal sensory nystagmus, optic nerve pallor, macular atrophy, and peripheral intraretinal pigment migration less severe than her brother 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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