Phenotype #0000067403

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00087877
Associated disease	RPar
Phenotype details	Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	42y
Phenotype/Onset	night blindness and visual field defects
Protein	-
Owner name	Raheel Qamar
Database submission license	No license selected
Created by	Raheel Qamar
Date created	2012-09-06 09:49:01 +02:00 (CEST)
Date last edited	2020-09-04 12:50:01 +02:00 (CEST)

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