Phenotype #0000016761

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00017939
Associated disease	PKD1
Phenotype details	2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y.
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Cysts	-
Hypertension	-
Protein	-
Owner name	Marianne Vos (LOVD-team)
Database submission license
Created by	Marianne Vos (LOVD-team)
Date created	2014-07-09 11:16:56 +02:00 (CEST)
Date last edited	N/A

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