Phenotype #0000304405

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412400
Associated disease	-
Phenotype details	visual acuity right; left eye: 0.4,0.3; fundus change: optic papilla wax yellow, attenuated retinal arteries, pigment bone spicule-like, reduced foveal reflex; electroretinogram, rod: not available, cone: not available
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	57y (57 years)
Age/Diagnosis	-
Age/Onset	<8y
Phenotype/Onset	night blindness
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-27 22:34:38 +02:00 (CEST)
Date last edited	N/A

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