Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.93-21G>A | 1 | |||
| NM_000518.5:c.27dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.24.2 | Lebanon | Female | Yes | Yes | Sister of proband | |
| 613985.24.3 | Lebanon | Male | Yes | Yes | Father of proband | |
| 613985.24.4 | Lebanon | Anemia | Female | No | Yes | Mother of proband |