Global Variome shared LOVD

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

Phenotype #0000341591 Individual ID 00452949 Associated disease neuropathy Diagnosis/Initial - Diagnosis/Definite - 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); Color vision defect (HP:0000551); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843) Inheritance Familial, autosomal dominant Age/Examination 27y (27 years) Age/Onset <16y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2024-08-07 10:52:45 +02:00 (CEST) Date last edited 2024-09-15 08:17:50 +02:00 (CEST)

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