Global Variome shared LOVD

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Phenotype #0000301793 Individual ID 00409677 Associated disease BCD Phenotype details disease stage: 2; best corrected visual acuity right/left eye: 1.3/0.7; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 30y 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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