Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138694.3:c.3539G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 263200.4.1 | Saudi Arabia | Polycystic kidney dysplasia; Hepatomegaly; | Unknown | Yes | Yes | Presumed homozygous |
| 263200.4.2 | Saudi Arabia | Female | Mother of 263200.4.1 |