Male
| 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 |
|---|---|---|---|---|---|---|
| 249000.4.1 | Saudi Arabia | Stillbirth; Renal cyst; Encephalocele | Unknown | Yes | Yes | Fetus was presumed to be homozygous based on both parents' DNA. The patient had 2 similarly affected siblings |
| 249000.4.3 | Saudi Arabia | Female | Mother of 249000.4.1 |