Global Variome shared LOVD

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Phenotype #0000313886 Individual ID 00422682 Associated disease JBTS Phenotype details born full-term by normal delivery, weighing 4,050 g and measuring 55 cm in height; hospitalized at the age of 5 months, diagnosed with hypotonia and developmental delay; brain magnetic resonance imaging: typical molar tooth sign, indicating severe cerebellar vermis hypoplasia; no renal/hepatic involvement, polydactyly, or agenesis of the corpus callosum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-10 20:54:11 +01:00 (CET) Date last edited N/A

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