Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000089.4:c.1378G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 166220.1 | Saudi Arabia | Reduced bone mineral density; Bowing of the long bones | Male | No | ||
| 166220.2 | Saudi Arabia | Recurrent fractures; Triangular face; Blue sclerae; Micrognathia; High, narrow palate | Male | Yes | De novo mutation | |
| 166220.3 | Saudi Arabia | Recurrent fractures; Multiple prenatal fractures; Blue sclerae; Small face | Male | No | De novo mutation |