Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007326.4:c.813_815delinsAA | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250800.1.2 | Lebanon | ; | Female | No | Mother of 250800.1.1 | |
| 250800.1.3 | Lebanon | ; | Male | No | Father of 250800.1.1 | |
| 250800.1.4 | Lebanon | ; | Female | No | Sibling of 250800.1.1 | |
| 250800.1.5 | Lebanon | ; | Unknown | Sibling of 250800.1.1. Genotyped with fetal amniocentosis |