Global Variome shared LOVD

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

Phenotype #0000309679 Individual ID 00418312 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Progressive visual loss (HP:0000529) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset <18y 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 18:27:45 +02:00 (CEST) Date last edited 2024-09-09 17:27:40 +02:00 (CEST)

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