Phenotype #0000301428

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409311
Associated disease	BCD
Phenotype details	best corrected visual acuity right, left eye: 0.5,0.6, electroretinogram amplitudes (uV) right, left eye: 329,323; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-06 13:27:51 +02:00 (CEST)
Date last edited	N/A

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