Phenotype #0000302354

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410249
Associated disease	-
Phenotype details	45y: best corrected visual acuity right, left eye: hand movement 10 cm, hand movement 10 cm; 30y: full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; optic disk pallor; additional findings
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-22 11:31:27 +02:00 (CEST)
Date last edited	N/A

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