Global Variome shared LOVD

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Phenotype #0000310086 Individual ID 00418789 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Visual field defect (HP:0001123); Blue-yellow dyschromatopsia (HP:0000552); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Reduced visual acuity (HP:0007663) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - 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 09:21:06 +02:00 (CEST) Date last edited 2024-07-07 14:06:02 +02:00 (CEST)

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