Global Variome shared LOVD

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Phenotype #0000207579 Individual ID 00269775 Associated disease JBTS Phenotype details see paper; ... Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS-5 Age/Examination - 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 2019-12-05 11:24:58 +01:00 (CET) Date last edited N/A

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