Phenotype #0000016136

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00017800
Associated disease	JBTS1
Inheritance	Familial, autosomal recessive
Phenotype details	all 4 childhood-onset Joubert Syndrome, extremely poor learning abilities; brain MRI molar tooth sign
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-06-28 23:27:14 +02:00 (CEST)
Date last edited	N/A

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