Global Variome shared LOVD

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Phenotype #0000311193 Individual ID 00419924 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Abnormality of visual evoked potentials (HP:0000649); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 18y (18 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 2022-10-25 15:44:20 +02:00 (CEST) Date last edited 2024-09-09 17:30:41 +02:00 (CEST)

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