614700.4.1

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  2. Subject Details

Country

Saudi Arabia

HPO Terms

Recurrent otitis media ; Recurrent pneumonia ; Bronchiectasis; Clubbing of fingers ; Chronic diarrhea ; Inflammation of the large intestine ; Arthralgia/arthritis ; Decreased circulating antibody level
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006726.4:c.6657_6658delCT2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614700.4.2Saudi ArabiaChronic diarrhea ; Inflammation of the large intestine ; Autoimmune thrombocytopenia ; Autoimmune hemolytic anemia ; Decreased circulating antibody levelFemaleYesYesSister of 614700.4.1
614700.4.3Saudi ArabiaChronic diarrhea ; Decreased circulating antibody levelFemaleYesYesSister of 614700.4.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.