Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004963.3:c.2782T>C | 1 | |||
| NM_004963.3:c.2008G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614665.1.1 | Lebanon | Echogenic fetal bowel ; Meconium ileus | Male | Yes | Yes | Proband |
| 614665.1.3 | Lebanon | Male | Yes | Yes | Unaffected brother of 614665.1.1 | |
| 614665.1.4 | Lebanon | Male | Yes | Unaffected father of 614665.1.1 | ||
| 614665.1.5 | Lebanon | Female | Yes | Unaffected mother of 614665.1.1 |