Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004273.5:c.911G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143095.1.1 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | |
| 143095.1.3 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.1.1 |
| 143095.1.4 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.1.1 |
| 143095.1.5 | Oman | Male | Yes | Unaffected father of 143095.1.1 | ||
| 143095.1.6 | Oman | Female | Yes | Unaffected mother of 143095.1.1 |