Global Variome shared LOVD

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Phenotype #0000290756 Individual ID 00397632 Associated disease - Phenotype details eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis, encephalocele Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Senior-Loken syndrome Age/Examination 2y (2 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 2021-12-27 14:14:17 +01:00 (CET) Date last edited N/A

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