Phenotype #0000304934

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00412948
Associated disease	-
Phenotype details	bone spicule-like pigmentation in the mid-periphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-06 17:58:50 +02:00 (CEST)
Date last edited	N/A

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