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 InternationalCreative Commons License
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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