Global Variome shared LOVD

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Phenotype #0000301466 Individual ID 00409349 Associated disease BCD Phenotype details best corrected visual acuity right; left eye: 0.9; 0.7, fundus changes: crystalline deposit, carpet-like retinal degeneration, attenuated vesseles, visual field: not available, electroretinogram rod response: normal, electroretinogram cone response: severely reduc Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset 36y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-06 20:08:31 +02:00 (CEST) Date last edited N/A

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