Phenotype #0000318910

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00427964
Associated disease	JBTS
Phenotype details	global delay, late walking, poor sense of balance, required educational support (primary and high school); cerebellar signs with head tilt , rotational nystagmus; dysarthria, hypometric saccades; brain MRI molar tooth sign
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JBTS27
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-19 10:38:29 +01:00 (CET)
Date last edited	N/A

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