Global Variome shared LOVD

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Phenotype #0000180249 Individual ID 00240094 Associated disease OPA1 Phenotype details Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned. Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 44y Age/Onset - Phenotype/Onset - Vision/Acuity OD 0.4 LogMAR;OS 0.4 LogMAR Vision/Colour - Vision/Field - Birth_Details - Eye/Optic_Disc - Eye/OCT - Brain/Imaging - MotorSkills - Vision/Abnormality - Hearing/Loss - Protein - Owner name Marc Ferre Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marc Ferre Date created 2019-06-11 11:52:08 +02:00 (CEST) Date last edited N/A

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