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CYBB

cytochrome b-245 beta chain

HCNC Approved Symbol
CYBB (HGNC:2578)
Genomic Coordinates
23:37,780,059 - 37,813,461 (Xp21.1-p11.4)
Synonyms
GP91-PHOX, NOX2, GP91PHOX, p91-PHOX, CGD
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Chronic granulomatous disease, X-linked
306400X-linked recessive
Immunodeficiency 34, mycobacteriosis, X-linked
300645X-linked recessive

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CYBB gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abdominal pain
 1 (33.3%)
Chronic diarrhea
 1 (33.3%)
Fever
 1 (33.3%)
Immunodeficiency
 1 (33.3%)
Recurrent
 1 (33.3%)