Global Variome shared LOVD

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

Phenotype #0000296878 Individual ID 00404290 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/30; macular lesions and smaller scattered vitelliform lesions in the periphery of the right eye, intraretinal cysts, and elevation and separation of the neurosensory retina from the retinal pigment epithelium in the left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-28 14:15:27 +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.