Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000445.5:c.913C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612138.1.1 | Lebanon | Abnormal blistering of the skin; Aplasia cutis congenita on trunk or limbs; Neonatal death | Male | No | Yes | |
| 612138.1.3 | Lebanon | Male | No | Yes | Father of 612138.1.1 |