Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003593.2:c.562del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601705.1.2 | Lebanon | Male | Yes | Unaffected father of 601705.1.1 | ||
| 601705.1.3 | Lebanon | Female | Yes | Unaffected mother of 601705.1.1 |