Global Variome shared LOVD

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Phenotype #0000322129 Individual ID 00431553 Associated disease CGDX Phenotype details see paper; ..., 21m-osteomyelitis, chronic granulomatous disease; treated with treatment with sulfamethoxazole/trimethoprim and itraconazole, 9y-one episode of cervicolymphadenitis; recurrent episodes of vesicular stomatitis (no herpes simplex virus; cognitive delay, speech retardation, not acquired reading/writing skills; MRI brain normal Diagnosis/Initial osteomyelitis Inheritance Isolated (sporadic) Diagnosis/Definite CGDX Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-14 18:22:51 +01:00 (CET) Date last edited N/A

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