Phenotype #0000314533

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423326
Associated disease	-
Phenotype details	age (at presentation; at last examination): 3; 7; logMAR vision at last examination (right; left eye): 0.5; 1.6; main fundoscopic findings: coloboma-like macular lesions; subfoveal scarring and fluid owing to neovascularization; subtle peripheral drusenoid lesions
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	North Carolina macular dystrophy
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-15 13:35:33 +01:00 (CET)
Date last edited	N/A

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