Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000238.4:c.3208C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613688.5.2 | Saudi Arabia | Male | Father of 613688.5.1 | |||
| 613688.5.3 | Saudi Arabia | Female | Mother of 613688.5.1 |