Phenotype #0000317605

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00426451
Associated disease	-
Phenotype details	onset of night blindness: childhood; best corrected visual acuity right/left eye: 0.1/0.1; cataract; fundus appearance: intraretinal bone spicule pigments in four quadrants; visual field: constriction, central 15 degrees; electroretinogram: not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-30 12:31:10 +01:00 (CET)
Date last edited	N/A

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