Phenotype #0000301664

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409547
Associated disease	CDG2A
Phenotype details	best corrected visual acuity: 0.6; electroretinogram , rod: mildly reduced, cone: severely reduced
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-10 12:05:14 +02:00 (CEST)
Date last edited	N/A

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