Phenotype #0000308402

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00416890
Associated disease	ND
Inheritance	Familial, X-linked recessive
Diagnosis/Initial	-
Age/Examination	33y (33 years)
Diagnosis/Definite	Norrie disease (ND)
Age/Diagnosis	13y
Age/Onset	-
Phenotype/Onset	-
Phenotype details	best corrected visual acuity right, left eye:20/20,no light perception; initial refractive error:+ 1.00 sphere right eye; slit-lamp examination:normal /white cataract; fundus: temporal dragging of vessels, abnormal vessels /retinal detachment
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-09 13:06:13 +02:00 (CEST)
Date last edited	N/A

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