Phenotype #0000250585

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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