Global Variome shared LOVD
CDKN1B (cyclin-dependent kinase inhibitor 1B (p27,...))
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Curator:
Veronica Yu
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Phenotype #0000351165
Individual ID
00465622
Associated disease
HAE4
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
Rare, irregular mild episodes of swelling in the extremities lasting several days and recurrent abdominal pain. At 30 years of age she had mild episodes of edema during pregnancy and while taking oral contraceptives. No family history.
Inheritance
Unknown
Age/Examination
-
Age/Diagnosis
40y
Age/Onset
08y
Phenotype/Onset
-
Owner name
Christian Drouet
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Christian Drouet
Date created
2025-05-28 14:27:05 +02:00 (CEST)
Date last edited
N/A
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