Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138694.3:c.4870C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 263200.1.1 | Saudi Arabia | Polycystic kidney dysplasia; Abnormal heart morphology; Pulmonary hypoplasia; | Unknown | Yes | ||
| 263200.1.2 | Saudi Arabia | Female | Mother of 263200.1.1 |