Global Variome shared LOVD

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

Phenotype #0000301797 Individual ID 00409681 Associated disease BCD Phenotype details disease stage: 2/3; best corrected visual acuity right/left eye: 0.52/0.3; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 62y (62 years) Age/Diagnosis - Age/Onset 42y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-10 14:45:42 +02:00 (CEST) Date last edited N/A

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