Global Variome shared LOVD

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Phenotype #0000023263 Individual ID 00027191 Associated disease JBTS1 Inheritance Familial, autosomal recessive Phenotype details see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ... Diagnosis/Initial - Age/Examination >23y (later than 23 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 2014-12-24 17:51:09 +01:00 (CET) Date last edited N/A

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