Global Variome shared LOVD
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Phenotype #0000016755
Individual ID
00017941
Associated disease
PKD1
Phenotype details
28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size +
function; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive
renal function remains normal.
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Cysts
-
Hypertension
-
Protein
-
Owner name
Marianne Vos (LOVD-team)
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Marianne Vos (LOVD-team)
Date created
2014-07-07 15:34:45 +02:00 (CEST)
Date last edited
N/A
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