Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002615.7:c.696C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613982.1.1 | United Arab Emirates | Fractures of the long bones; Vertebral compression fracture; Reduced bone mineral density; Blue sclerae; Short stature; Inability to walk | Male | Yes | Yes |