Global Variome shared LOVD
PROM1 (prominin 1)
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Curator:
Pascal Escher
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Phenotype #0000055322
Individual ID
00075547
Associated disease
STGD1
Phenotype details
Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
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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