Global Variome shared LOVD

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Phenotype #0000301731 Individual ID 00409615 Associated disease BCD Phenotype details disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.22; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 21y 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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