Global Variome shared LOVD

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Phenotype #0000322816 Individual ID 00432249 Associated disease ? Diagnosis/Initial lytic lesion skul Diagnosis/Definite CGD1 Phenotype details see paper; ..., scalp swelling following minor head trauma, recurrent abscesses with Serratia marcescens; CT brain left frontal bone defect, bevel edge appearance associated with extracranial and extra-axial soft tissue component Inheritance Familial, autosomal recessive Age/Examination 00y18m (18 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-20 17:13:14 +01:00 (CET) Date last edited N/A

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