Phenotype #0000311183

Individual ID 00419914
Associated disease neuropathy, optic
Phenotype details Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Nephropathy (HP:0000112)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 64y (64 years)
Age/Diagnosis -
Age/Onset 09y
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 14:15:40 +02:00 (CEST)
Date last edited 2024-08-16 10:11:16 +02:00 (CEST)

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