Global Variome shared LOVD

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

Phenotype #0000311188 Individual ID 00419919 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); abnormal rod and cone electroretinogram (HP:0008323); Abnormal electroretinogram (HP:0000512); Undetectable visual evoked potentials (HP:0007965); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal foveal morphology (HP:0000493); Hypothyroidism (HP:0000821); Macular dystrophy (HP:0007754) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-25 15:10:45 +02:00 (CEST) Date last edited 2024-09-09 17:30:26 +02:00 (CEST)

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