Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153240.5:c.2694-2_2694-1del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208540.2 | Saudi Arabia | Moderate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasia | Female | |||
| 208540.3 | Saudi Arabia | Polycystic kidney dysplasia; Pulmonary hypoplasia | Female | Yes |