Global Variome shared LOVD
CPN1 (carboxypeptidase N, polypeptide 1)
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Curator:
Christian Drouet
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Phenotype #0000054554
Individual ID
00074779
Associated disease
STGD1
Phenotype details
Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
<30y
Phenotype/Onset
unknown
Protein
-
Owner name
Stéphanie Cornelis
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Stéphanie Cornelis
Date created
2016-02-22 12:22:09 +01:00 (CET)
Date last edited
N/A
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