Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004407.3:c.1A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241520.1.1 | Lebanon | Short stature ; Genu varum ; Mandibular prognathia ; Cranial hyperostosis ; Increased bone mineral density | Female | Yes | Yes | |
| 241520.1.3 | Lebanon | Female | Yes | Yes | Unaffected sister of 241520.1.1 | |
| 241520.1.4 | Lebanon | Female | Yes | Yes | Unaffected sister of 241520.1.1 | |
| 241520.1.5 | Lebanon | Female | Yes | Unaffected mother of 241520.1.1 |