Phenotype #0000263695

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00368357
Associated disease	-
Phenotype details	At the age of 19, the visual acuity was 0.1/0.1 (OD/OS). The fundus showed: attenuated retinal arteries; no foveal reflex;. ERG response of the rods was: not available and of the cones was not available.
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	poor vision
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2021-05-03 14:25:36 +02:00 (CEST)
Date last edited	N/A

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