Global Variome shared LOVD

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Phenotype #0000309229 Individual ID 00417856 Associated disease neuropathy, optic Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Sensorineural hearing impairment (HP:0000407); Nephropathy (HP:0000112); Retinal degeneration (HP:0000546) ; Nystagmus (HP:0000639); Relative afferent pupillary defect (HP:0200057) ; Optic disc pallor (HP:0000543) ; Dull foveal reflex (HP:0007750) ; Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); chronic kidney disease (HP:0012622); Tinnitus (HP:0000360); Abnormal heart valve morphology (HP:0001654); Mitral regurgitation (HP:0001653); Aortic insufficiency (HP:0001659); Headaches (HP:0002315); Slowed slurred speech (HP:0007164); Impaired tandem gait (HP:0031629) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 23y (23 years) Age/Diagnosis 02y Age/Onset 00y18m Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-09-26 19:30:02 +02:00 (CEST) Date last edited 2024-09-14 16:48:50 +02:00 (CEST)

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