Global Variome shared LOVD

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

Phenotype #0000309678 Individual ID 00418311 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) ; Color vision defect (HP:0000551) ; Temporal optic disc pallor (HP:0012511) ; macular pucker (HP:0100014) ; Retinal pigment epithelial atrophy (HP:0007722); Stroke (HP:0001297); Reduced visual acuity (HP:0007663) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 76y (76 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-09-27 17:37:01 +02:00 (CEST) Date last edited 2023-11-16 11:44:29 +01:00 (CET)

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