Phenotype #0000267423

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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