Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006755.2:c.793del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606003.6.1 | Saudi Arabia | Respiratory distress; Abnormal facial shape; pancytopenia; Hepatic fibrosis; Atrial septal defect | Male | Yes | Yes | |
| 606003.6.3 | Saudi Arabia | Abnormal facial shape; Thrombocytopenia; Atrial septal defect; Splenomegaly; | Male | Yes | Yes | Sibling of 606003.6.1 |