Global Variome shared LOVD

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

Phenotype #0000301709 Individual ID 00409593 Associated disease BCD Phenotype details disease stage: 2/3; best corrected visual acuity right/left eye: 1/1.7; optical coherence tomography: not available Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 34y 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

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