Phenotype #0000250129

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00331938
Associated disease	-
Phenotype details	reduced visual acuity; scotopic ERG normal; photopic ERG normal
Diagnosis/Initial	macular dystrophy or cone-rod dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	reduced visual acuity
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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