Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000233074 Individual ID 00307273 Associated disease OPA Phenotype details Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Retinal atrophy (HP:0001105) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality - Hearing/Loss - Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Marc Ferre Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2020-08-07 16:50:14 +02:00 (CEST) Date last edited N/A

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