Global Variome shared LOVD

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Phenotype #0000310088 Individual ID 00418791 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-07 09:31:43 +02:00 (CEST) Date last edited 2024-07-29 10:12:15 +02:00 (CEST)

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