Global Variome shared LOVD

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Phenotype #0000016761 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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