Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004183.4:c.830C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611809.2.2 | Lebanon | Male | No | Father of 611809.2.1 | ||
| 611809.2.3 | Lebanon | Female | No | Mother of 611809.2.1 |