Phenotype #0000281739

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388146
Associated disease	-
Phenotype details	Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: 0.1/0.2, fundus: Pigmentary retinopathy, ERG: Severely reduced, additional features: Developmental delay, Molar tooth sign
Diagnosis/Initial	Joubert syndrome
Inheritance	Unknown
Diagnosis/Definite	Joubert syndrome
Age/Examination	7y4m (7 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-02 11:59:44 +01:00 (CET)
Date last edited	N/A

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