Global Variome shared LOVD

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Phenotype #0000129577 Individual ID 00164540 Associated disease OPA Phenotype details - Diagnosis/Initial optic atrophy Inheritance Unknown Diagnosis/Definite OPA-1 Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details birth weight: ? MotorSkills - Vision/Abnormality hemeralopia;photophobia Hearing/Loss nr Eye/Optic_Disc OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS optic disc Protein - Brain/Imaging - Eye/OCT - Vision/Field OD Humphrey;OS Humphrey;OD superotemporal;OD centrocecal;OD paracentral;OS centrocecal;OS paracentral Vision/Acuity OD 0.7 LogMAR;OS 0.5 LogMAR Vision/Colour OD dyschromatopsia;OS dyschromatopsia Habits nr Owner name Bastien Le Roux Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2018-06-01 18:39:38 +02:00 (CEST) Date last edited 2018-11-16 15:42:11 +01:00 (CET)

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