Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080424.2:c.642del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 235550.2.2 | Lebanon | Hepatosplenomegaly; Ascites | Female | Yes | Patient 'B II.2' in the publication, sister of 235550.2.1 | |
| 235550.2.3 | Lebanon | Male | Father of 235550.2.1 | |||
| 235550.2.4 | Lebanon | Female | Mother of 235550.2.1 |