Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199282.2:c.2032C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614700.2.1 | Saudi Arabia | Protracted diarrhea ; Type I diabetes mellitus ; Hypothyroidism ; Coombs-positive hemolytic anemia ; Sepsis ; Decreased circulating antibody level | Male | Yes | ||
| 614700.2.2 | Saudi Arabia | Male | Yes | Unaffected father of 614700.2.1 |