Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006726.4:c.6657_6658delCT | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614700.4.1 | Saudi Arabia | Recurrent otitis media ; Recurrent pneumonia ; Bronchiectasis; Clubbing of fingers ; Chronic diarrhea ; Inflammation of the large intestine ; Arthralgia/arthritis ; Decreased circulating antibody level | Female | Yes | Yes | |
| 614700.4.2 | Saudi Arabia | Chronic diarrhea ; Inflammation of the large intestine ; Autoimmune thrombocytopenia ; Autoimmune hemolytic anemia ; Decreased circulating antibody level | Female | Yes | Yes | Sister of 614700.4.1 |