Phenotype #0000310095

Individual ID 00418797
Associated disease neuropathy, optic
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Hearing impairment (HP:0000365); Visual field defect (HP:0001123); Dyschromatopsia (HP:0007641); Abnormal electroretinogram (HP:0000512); Abnormality of visual evoked potentials (HP:0000649); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 76y (76 years)
Age/Diagnosis -
Age/Onset 37y
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 2022-10-07 10:26:32 +02:00 (CEST)
Date last edited 2024-09-14 15:00:23 +02:00 (CEST)

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