Phenotype #0000170838

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00225727
Associated disease	JBTS
Phenotype details	cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, abnormal eye movements, optic disc; ataxia, hypotonia, mental retardation, molar tooth sign; no polydactily
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JBTS-9
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-23 21:23:16 +01:00 (CET)
Date last edited	N/A

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