Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001017535.1:c.1171C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.2.2 | Lebanon | Male | Yes | Unaffected father of 277440.2.1 | ||
| 277440.2.3 | Lebanon | Female | Yes | Unaffected mother of 277440.2.1 |