Global Variome shared LOVD

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Phenotype #0000254126 Individual ID 00358868 Associated disease JBTS Phenotype details severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-16 16:48:35 +01:00 (CET) Date last edited N/A

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