Global Variome shared LOVD

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Phenotype #0000250577 Individual ID 00332391 Associated disease - Phenotype details Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished Diagnosis/Initial Leber congenital amaurosis Inheritance Familial, autosomal recessive Diagnosis/Definite LCA Age/Examination 1y7m (1 year, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-18 13:23:10 +01:00 (CET) Date last edited N/A

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