Global Variome shared LOVD

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Phenotype #0000016134 Individual ID 00017798 Associated disease JBTS1 Inheritance Isolated (sporadic) Phenotype details cerebellar vermis aplasia, hypotonia, no evidence renal disease Diagnosis/Initial - Age/Examination 06y (6 years) Diagnosis/Definite - 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 2014-06-28 23:09:22 +02:00 (CEST) Date last edited 2014-06-28 23:16:34 +02:00 (CEST)

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