Global Variome shared LOVD

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

Phenotype #0000342118 Individual ID 00453454 Associated disease neuropathy, optic Phenotype details Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512) Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 02y? Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2024-08-29 19:33:26 +02:00 (CEST) Date last edited 2024-09-02 09:27:14 +02:00 (CEST)

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