Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000088.4:c.2050G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 120150.1 | Saudi Arabia | Joint hypermobility; Wormian bones; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Persistent head lag; Brachycephaly | Male | Yes | ||
| 120150.2 | Saudi Arabia | Joint hypermobility; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Osteopenia | Female | Yes |