Phenotype #0000305771

Individual ID 00413806
Associated disease -
Phenotype details VA(RE-LE): 6/9–6/9; Bilateral ‘‘bull’s eye maculopathy’’ ; Concentric rings of increased and decreased AF ; Borderline reduced maximal responses ; Reduced PERG; Bilateral mild protan, deutan and tritan defects
Diagnosis/Initial cone-rod dystrophy (CORD7)
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 75y (75 years)
Age/Diagnosis -
Age/Onset 41y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-07-22 03:34:11 +02:00 (CEST)
Date last edited N/A

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