Phenotype #0000300013

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00407883
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 0.1 / 0.8, fundus: pigment mobilization, pale optic disc, filiform vessels, tapetal reflection, electroretinogram: extinguished, other symptoms: photophobia
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	11y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-09 22:56:34 +02:00 (CEST)
Date last edited	N/A

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