Global Variome shared LOVD

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Phenotype #0000310097 Individual ID 00418800 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754); Temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Abnormality of the cardiovascular system (HP:0001626) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 09y 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 10:50:18 +02:00 (CEST) Date last edited 2024-09-09 17:29:52 +02:00 (CEST)

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