Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_133378.4:c.74633C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604145.1.1 | United Arab Emirates | Unknown | ||||
| 604145.1.2 | United Arab Emirates | Female | Mother of 604145.1.1 |