Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025132.4:c.2777G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614378.2 | Saudi Arabia | Renal insufficiency; Oral cleft; Abnormal facial shape; Bifid nose; Short nose; Microdontia | Female | Yes | Yes |