Phenotype #0000299762

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00407593
Associated disease	-
Phenotype details	1y: best corrected visual acuity right, left eye: 20/260, 20/290, refraction (spherical equivalent): +6.5, electroretinogram: not detectable, renal disease: none; 3y: best corrected visual acuity right, left eye: light perception, light perception
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-06 19:14:38 +02:00 (CEST)
Date last edited	N/A

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