Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000346.3:c.509C>T | 1 | |||
| NM_000346.3:c.507C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 114290.1.2 | Lebanon | Male | Father of 114290.1.1 |