Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001281723.3:c.130G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253260.1.2 | Lebanon | Male | No | Unaffected father of 253260.1.1 | ||
| 253260.1.3 | Lebanon | Female | No | Unaffected mother of 253260.1.1 |