Global Variome shared LOVD

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Phenotype #0000310962 Individual ID 00419682 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Diabetes mellitus (HP:0000819) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 69y (69 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-21 11:46:43 +02:00 (CEST) Date last edited 2024-09-15 08:08:27 +02:00 (CEST)

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