Global Variome shared LOVD

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Phenotype #0000301429 Individual ID 00409312 Associated disease BCD Phenotype details best corrected visual acuity right, left eye: 0.4,0.2, electroretinogram amplitudes (uV) right, left eye: 229,206; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-06 13:27:51 +02:00 (CEST) Date last edited N/A

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