Global Variome shared LOVD

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Phenotype #0000290707 Individual ID 00397583 Associated disease - Phenotype details best-corrected visua acuity right/left eye: 20/1200/20/800, refraction (spherical equivalent: 16.5/N/A, kinetic visual field extent (V-4e; percentage of normal mean of V-4e target; 2 SD below normal equals 90%): not detectable/not detectable Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 17y (17 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 2021-12-26 19:07:26 +01:00 (CET) Date last edited N/A

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