Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000492.4:c.3883_3884insG | 2 | 2.5 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
219700.69.1 | Lebanon | Recurrent bronchiolitis; Recurrent pneumonia; Failure to thrive; Chronic diarrhea; Elevated sweat chloride | Male | Yes | Yes | Proband |
219700.69.3 | Lebanon | Male | Father of the proband | |||
219700.69.4 | Lebanon | Female | Mother of the proband |