Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005337.5:c.773G>T | 2 | |||
| NM_025074.7:c.2128A>T | 2 | |||
| NM_013289.2:c.487del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618982.1 | Arab | Recurrent bacterial skin infections; Recurrent viral skin infections; Recurrent Respiratory infections; Decreased specific antibody response to vaccination; Sensorineural hearing impairment ; Hepatosplenomegaly; Lymphadenopathy; Abnormal bleeding; Abnormality of the dentition; Persistence of primary teeth | Male | Yes | Yes | Significant family history, with at least 3 sibs displaying syndromic symptoms. Three older brothers died in infancy from fever and organ failure. |