Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001085427.2:c.827C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250100.8.1 | Palestine | Others | Yes | |||
| 250100.8.2 | Palestine | Unaffected | Female | Mother of 250100.8.1 |