Global Variome shared LOVD
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Phenotype #0000185030
Individual ID
00245070
Associated disease
HAE1;HAE2
Phenotype details
Proband presenting with SLE-like syndrome, with polyarthritis, pleuropericarditis, Raynaud's phenomenon and alopecia (Zahedi 1997).
The proband had partial deficiency of complement C4: Unusual hereditary C4 deficiency, with a normal C4 gene.
Diagnosis/Initial
-
Inheritance
Familial
Diagnosis/Definite
-
Age/Examination
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Age/Diagnosis
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Age/Onset
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Phenotype/Onset
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Protein
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Owner name
Christian Drouet
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Christian Drouet
Date created
2019-07-01 18:51:25 +02:00 (CEST)
Date last edited
2025-01-26 18:48:41 +01:00 (CET)
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