Phenotype #0000309979

Individual ID 00418649
Associated disease neuropathy, optic
Phenotype details Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal rod and cone electroretinogram (HP:0008323); Delayed speech and language development (HP:0000750); Specific learning disability (HP:0001328); intention tremor (HP:0002080); Vertigo (HP:0002321); Fainting spell 5HP:0001279); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Retinal pigment epithelial atrophy (HP:0007722); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinal dystrophy (HP:0000556); memory impairment (HP:0002354); Dysesthesia (HP:0012534)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination ?
Age/Diagnosis -
Age/Onset 03y
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 2022-10-03 16:27:20 +02:00 (CEST)
Date last edited 2024-09-14 16:22:33 +02:00 (CEST)

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