Global Variome shared LOVD

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Phenotype #0000285423 Individual ID 00392145 Associated disease - Phenotype details best corrected visual acuity right/left eye: counting fingers/0.05, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema right eye Diagnosis/Initial rod-cone dystrophy Inheritance Unknown Diagnosis/Definite RP-199 Age/Examination 56y (56 years) Age/Diagnosis 15y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-21 15:43:04 +01:00 (CET) Date last edited N/A

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