Phenotype #0000341591

Individual ID 00452949
Associated disease neuropathy
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) ; Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843)
Inheritance Familial, autosomal dominant
Age/Examination 27y (27 years)
Age/Onset <16y
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 2024-08-07 10:52:45 +02:00 (CEST)
Date last edited 2024-09-15 08:17:50 +02:00 (CEST)

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