Phenotype #0000250585

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00332399
Associated disease	-
Phenotype details	vertical jerk nystagmus; fundus grossly normal; no oculodigital sign; cataract
Diagnosis/Initial	idiopathic infantile nystagmus
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	PAX6
Age/Examination	9y9m (9 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-18 13:23:10 +01:00 (CET)
Date last edited	N/A

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