Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014249.4:c.119-2A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268100.5.2 | Palestine | Male | No | Yes | Unaffected brother of 268100.5.1 | |
| 268100.5.3 | Palestine | Male | No | Unaffected father of 268100.5.1 | ||
| 268100.5.4 | Palestine | Female | No | Unaffected mother of 268100.5.1 |