Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015311.3:c.1306del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612921.5 | Saudi Arabia | Anteverted nares; Depressed nasal bridge; Triangular face; Thin upper lip vermilion | Male | Yes | Yes |