Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000138.5:c.2626_2634del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 154700.2 | Saudi Arabia | Tall stature; Aortic aneurysm; Dolichocephaly; Deeply set eye; Downslanted palpebral fissures | Male | No | De novo mutation |