Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000445.5:c.9085C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612138.2.1 | Saudi Arabia | Abnormal blistering of the skin; Congenital pyloric atresia; Neonatal death | Female | Yes | Neonatal death of sibling | |
| 612138.2.2 | Saudi Arabia | Female | Mother of 612138.2.1 |