Global Variome shared LOVD

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Phenotype #0000311191 Individual ID 00419922 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Nystagmus (HP:0000639) 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 15:30:18 +02:00 (CEST) Date last edited 2024-08-16 10:11:35 +02:00 (CEST)

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