Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006019.3:c.1421C>A | 1 | 0.0 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259700.4.3 | Syria | Unaffected | Female | Mother of 259700.4.1 and 259700.4.2 |