Global Variome shared LOVD

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Phenotype #0000310106 Individual ID 00418809 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663); Red-green dyschromatopsia (HP:0000642); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 18y 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 11:40:02 +02:00 (CEST) Date last edited 2024-01-03 12:16:19 +01:00 (CET)

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