Global Variome shared LOVD

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Phenotype #0000346606 Individual ID 00458170 Associated disease OPA Phenotype details see paper; ..., 12y-blurred vision, visual acuity both eyes decreased gradually for 6m,stable thereafter; optic nerve atrophy Diagnosis/Initial optic atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MMDS9B Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - 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 Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-03 19:14:21 +01:00 (CET) Date last edited N/A

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