Phenotype #0000315316

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424109
Associated disease	-
Phenotype details	age, first / last exam: 37 /--; visual acuity right eye first; last visit, left eye first; last visit20/20, --; 20/30, --; kinetic visual fields (V4e): temporal scotomas; full field electroretinography: rods: 50% normal, cones: <15% normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	-
Age/Diagnosis	-
Age/Onset	25y
Phenotype/Onset	impaired dark adaptation
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-17 13:39:56 +01:00 (CET)
Date last edited	N/A

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