Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198129.2:c.4299dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226700.1.2 | Lebanon | Male | Father of 226700.1.1 | |||
| 226700.1.3 | Lebanon | Female | Mother of 226700.1.1 |