Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020812.4:c.5254T>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614219.3 | Saudi Arabia | Aplasia cutis congenita; Depressed nasal bridge; Bulbous nose; Single transverse palmar crease | Male | Yes | Yes |