Global Variome shared LOVD

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Phenotype #0000291719 Individual ID 00398633 Associated disease C3D Phenotype details Proband presenting with a C3 deficient phenotype with recurrent pyogenic neonatal and paediatric infections, with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells Diagnosis/Initial 10d Inheritance Familial, autosomal recessive Diagnosis/Definite 12mo Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2022-01-07 17:25:44 +01:00 (CET) Date last edited 2022-11-30 10:26:17 +01:00 (CET)

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