Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001080477.4:c.6006_6009del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615145.1.2 | Egypt | Male | Father of 615145.1.1 | |||
| 615145.1.3 | Egypt | Female | Mother of 615145.1.1 |