Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000445.5:c.5258insG | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226670.1.1 | Lebanon | Abnormal blistering of the skin; Respiratory insufficiency | Female | No | Yes | |
| 226670.1.2 | Lebanon | Female | Mother of 226670.1.1 |