Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.6:c.5767C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.9.2 | Saudi Arabia | Male | Yes | Yes | Sibling of 210720.9.1 | |
| 210720.9.3 | Saudi Arabia | Male | Yes | Yes | Sibling of 210720.9.1 |