Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000142.5:c.1620C>G | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 146000.1.2 | Saudi Arabia | Disproportionate short stature | Female | Yes | No | Relative of 146000.1.1 |