Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.523A>G | 2 | |||
| NM_018076.5:c.1709G>A | 1 | |||
| NM_017950.4:c.257A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.74 | United Arab Emirates | Pancytopenia; Cirrhosis; Bronchiectasis; Splenomegaly; Growth delay; Intellectual disability | Male | Yes | Yes | |
| 219700.76 | United Arab Emirates | Constipation; Wheezing; Diarrhea; Elevated sweat chloride; Rectal prolapse; Intestinal obstruction | Male | Yes | Patient had milder form of cystic fibrosis | |
| 219700.77 | United Arab Emirates | Non-obstructive azoospermia | Male | |||
| 219700.78 | United Arab Emirates | Noncommunicating hydrocephalus; Scoliosis; Bronchiectasis; Abnormal facial shape; Ventricular septal defect; Elevated sweat chloride; Failure to thrive | Female | Yes | Yes | Emirati of Yemeni origin |