Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000310049 Individual ID 00418753 Associated disease neuropathy, optic Phenotype details Retinal pigment epithelial atrophy (HP:0007722); Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Abnormal rod and cone electroretinogram (HP:0008323); Abnormal pattern electroretinogram (HP:0030467); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Optic atrophy (HP:0000648); Myopia (HP:0000545); Perifoveal ring of hyperautofluorescence (HP:0030629); Reduced visual acuity (HP:0007663) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination ? Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-05 15:19:06 +02:00 (CEST) Date last edited 2024-09-14 16:51:05 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.