Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003118.4:c.57+1G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616507.1.1 | Sudan | Scoliosis; Short stature; Abnormal facial shape; Pectus excavatum; Joint hypermobility; Osteoporosis; Blue sclerae | Male | Yes | Yes |