Global Variome shared LOVD

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Phenotype #0000301519 Individual ID 00409402 Associated disease BCD Phenotype details best corrected visual acuity right, left eye: 0.4 / 0.5; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-09 10:58:59 +02:00 (CEST) Date last edited N/A

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