Global Variome shared LOVD

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Phenotype #0000301667 Individual ID 00409550 Associated disease CACTD Phenotype details best corrected visual acuity: 1; electroretinogram , rod: non- recordable, cone: severely reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, corneoretinal, crystalline, Bietti (BCD) Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset 50y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-10 12:05:14 +02:00 (CEST) Date last edited N/A

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