Male
Yes
| 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 |
|---|---|---|---|---|---|---|
| 120150.2 | Saudi Arabia | Joint hypermobility; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Osteopenia | Female | Yes | ||
| 120150.3 | Saudi Arabia | Motor delay; Hypotonia; Hip dysplasia | Female | No | Patient's parents are from the same tribe. |