Phenotype #0000258863

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00363513
Associated disease	-
Phenotype details	childhood onset; visual acuity R 0.05, L 0.05; bilateral retinal vascular attenuation, bone spicule like pigmentation in the mid-periphery retina, RPE degeneration, pale optic disc
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-29 10:58:03 +02:00 (CEST)
Date last edited	N/A

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