Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004273.5:c.911G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143095.2.01 | Oman | Short stature ; Scoliosis | Male | Yes | Yes | |
| 143095.2.02 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.2.01 |
| 143095.2.03 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.2.01 |
| 143095.2.04 | Oman | Short stature ; Scoliosis | Female | Yes | Yes | Sister of 143095.2.01 |
| 143095.2.06 | Oman | Female | Yes | Unaffected mother of 143095.2.01 | ||
| 143095.2.07 | Oman | Male | Yes | Yes | Unaffected brother of 143095.2.01 | |
| 143095.2.08 | Oman | Female | Yes | Yes | Unaffected sister of 143095.2.01 | |
| 143095.2.09 | Oman | Female | Yes | Yes | Unaffected sister of 143095.2.01 | |
| 143095.2.10 | Oman | Male | Yes | Yes | Unaffected brother of 143095.2.01 |