Global Variome shared LOVD

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Phenotype #0000028486 Individual ID 00037943 Associated disease LCA Phenotype details Night blindness, nystagmus, pink optic disc with edema and perivascular sheathing mild narrowing of the arterioles showing tortuosities with subretinal white dots along arterioles with PPRPE, macular aplasia with edema and a few intraretinal hemorrhages, atrophic RPE in periphery with PPRPE, nummular and a few spicular pigmentations Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y 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 N/A

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