Global Variome shared LOVD

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Phenotype #0000332971 Individual ID 00443634 Associated disease JBTS Phenotype details molar tooth sign; chorioretinal colobomas; cysts, 6m-chronic renal insufficiency; hepatosplenomegaly, elevated liver enzymes Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-30 08:54:02 +01:00 (CET) Date last edited N/A

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