Global Variome shared LOVD

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Phenotype #0000272346 Individual ID 00377188 Associated disease - Phenotype details see paper Diagnosis/Initial retinal disease Inheritance Familial, autosomal recessive Diagnosis/Definite dystrophy, retinal cone, type 3A (RCD-3A, achromatopsia type 6 (ACHM-6)) Age/Examination 8y (8 years) Age/Diagnosis 3y Age/Onset 2y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-07-16 14:18:12 +02:00 (CEST) Date last edited N/A

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