Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000336.2:c.616C>T | 2 | |||
| NM_003664.5:c.32A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 211400.2 | United Arab Emirates | Recurrent pneumonia; Aspiration; Abnormality of the respiratory system; Lipid-laden macrophages in bronchoalveolar fluid | Unknown | |||
| 211400.3 | United Arab Emirates | Chronic sinusitis; Failure to thrive | Subject exhibiting two heterozygous mutations in two genes related to airway lung disease. |