Phenotype #0000281620

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388025
Associated disease	-
Phenotype details	Hypotonia/ataxia, developmental delay/mental retardation, coloboma, retinitis pigmentosa, polycystic kidney congenital biliary, dilatation, hepatic ?brosis
Diagnosis/Initial	Joubert syndrome (JBTS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-11-02 00:52:48 +01:00 (CET)
Date last edited	N/A

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