Global Variome shared LOVD

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Phenotype #0000335851 Individual ID 00446650 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Color vision defect (HP:0000551); Abnormal rod and cone electroretinogram (HP:0008323); Attenuation of retinal blood vessels (HP:0007843) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 07y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2024-01-20 14:54:06 +01:00 (CET) Date last edited 2024-03-17 12:15:00 +01:00 (CET)

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