Phenotype #0000301660

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409543
Associated disease	PFIC1
Phenotype details	best corrected visual acuity: 0.7; electroretinogram , rod: severely reduced, cone: mildly reduced
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	56y (56 years)
Age/Diagnosis	-
Age/Onset	40y
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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