Phenotype #0000301688

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00409572
Associated disease	BCD
Phenotype details	disease stage: 1/2; best corrected visual acuity right/left eye: 0.1/0; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dystrophy, corneoretinal, crystalline, Bietti (BCD)
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-10 14:45:42 +02:00 (CEST)
Date last edited	N/A

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