Phenotype #0000250194

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00332003
Associated disease	-
Phenotype details	metamorphopsia; scotopic ERG normalreduced; photopic ERG not analyzable
Diagnosis/Initial	macular dystrophy or cone-rod dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	48y (48 years)
Age/Diagnosis	-
Age/Onset	46y
Phenotype/Onset	metamorphopsia
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-14 10:12:05 +01:00 (CET)
Date last edited	N/A

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