Global Variome shared LOVD

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Phenotype #0000267423 Individual ID 00372102 Associated disease - Phenotype details molar tooth sign; normal kidney; normal liver; no coloboma; encephalocele; polydactyly; seizures, EEG abnormal; frontal bossing, epicanthus, dysplastic ears, down turned corners of mouth, retrognathia, ptosis, right eye exotropia; hypospadias Diagnosis/Initial Joubert symdrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS34 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 2021-05-07 08:01:26 +02:00 (CEST) Date last edited N/A

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