Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000359.3:c.975_976CT[1] | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242300.4.2 | Saudi Arabia | Male | Yes | Father of 242300.4.1 | ||
| 242300.4.3 | Saudi Arabia | Female | Yes | Mother of 242300.4.1 |