Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001369.2:c.5563dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608644.1.1 | Lebanon | Recurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein arms | Female | Yes | Yes | |
| 608644.1.2 | Lebanon | Recurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein arms | Male | Yes | Yes | Sibling of 608644.1.1 |
| 608644.1.3 | Lebanon | Recurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein arms; Situs inversus totalis | Male | Yes | Yes | Sibling of 608644.1.1 |
| 608644.1.4 | Lebanon | Recurrent respiratory infections; Situs inversus totalis | Female | Yes | Yes | Sibling of 608644.1.1 |
| 608644.1.6 | Lebanon | Male | Father of 608644.1.1 |