Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173076.3:c.6900C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601277.2.2 | Saudi Arabia | Male | Yes | Father of 601277.2.1 | ||
| 601277.2.3 | Saudi Arabia | Female | Yes | Mother of 601277.2.1 |