Phenotype #0000325450

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00435254
Associated disease	C1SD
Phenotype details	Homozygous proband and her brother are presenting with a selective C1s deficiency and recurrent infections (several episodes of pneumonia, septic arthritis and sinusitis) and SLE manifestations since age 7y
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	25y
Age/Examination	-
Age/Diagnosis	-
Age/Onset	07y
Phenotype/Onset	-
Protein	-
Owner name	Christian Drouet
Database submission license
Created by	Christian Drouet
Date created	2023-06-23 10:24:19 +02:00 (CEST)
Date last edited	2023-06-26 09:34:46 +02:00 (CEST)

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