Phenotype #0000301505

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409388
Associated disease	BCD
Phenotype details	best corrected visual acuity right, left eye: 20/25, 20/25; fundus findings: crystalline deposits, pigmentation, retinal pigment epithelium atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	27y
Phenotype/Onset	nyctalopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-08 15:44:56 +02:00 (CEST)
Date last edited	N/A

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