Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000310087 Individual ID 00418790 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Blue-yellow dyschromatopsia (HP:0000552); Abnormality of visual evoked potentials (HP:0000649); Visual field defect (HP:0001123) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 12y 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 09:25:59 +02:00 (CEST) Date last edited 2023-12-15 12:29:31 +01:00 (CET)

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