Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001077418.3:c.664G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615399.3.1 | Saudi Arabia | Encephalocele; Polycystic kidney dysplasia; Agenesis of corpus callosum; Hepatic cysts; Talipes equinovarus | Yes | Yes | Patient from 'family FT-18' in the publication | |
| 615399.3.3 | Saudi Arabia | Female | Mother of 615399.3.1 |