Phenotype #0000310961

Individual ID 00419680
Associated disease neuropathy, optic
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Dyschromatopsia (HP:0007641); Abnormal multifocal electroretinogram (HP:0030468); Large central visual field defect (HP:0001129); Deafness (HP:0000365); Abnormal mitral valve morphology (HP:0001633); Abnormality of equilibrium (HP:0002141); Abnormal macular morphology (HP:0001103); Photophobia (HP:0000613); Pontocerebellar atrophy (HP:0006879); Hypercholesterolemia (HP:0003124)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 70y (70 years)
Age/Diagnosis -
Age/Onset 05y
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 2022-10-21 11:33:10 +02:00 (CEST)
Date last edited 2023-11-16 11:44:29 +01:00 (CET)

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