Global Variome shared LOVD

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

Phenotype #0000298705 Individual ID 00406207 Associated disease - Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 1 / 0,2, refractive errors (diopters) right/left eye: 0,5 / -1.5; fundus: macular atrophy, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 71y (71 years) Age/Diagnosis - Age/Onset 56y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-25 16:05:43 +01:00 (CET) Date last edited N/A

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