Global Variome shared LOVD

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Phenotype #0000310105 Individual ID 00418808 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663); Blue-yellow dyschromatopsia (HP:0000552); Dull foveal reflex (HP:0007750); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 03y 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 11:31:39 +02:00 (CEST) Date last edited 2024-09-15 08:03:32 +02:00 (CEST)

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