Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017777.4:c.1066C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249000.2.1 | Saudi Arabia | Stillbirth; Renal cyst; Oligohydramnios; Encephalocele | Unknown | Yes | Yes | The patient had 3 similarly affected siblings |
| 249000.2.2 | Saudi Arabia | Male | Father of 249000.2.1 |