Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001319138.2:c.1285T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 200700.1.1 | Saudi Arabia | Mesomelic/rhizomelic limb shortening; Hypoplasia of the radius; Hypoplasia of the ulna; Radial bowing; Ulnar bowing; Short femur; Fibular hypoplasia; Short tibia; Tibial bowing; Fibular bowing | Female | Yes | Yes | |
| 200700.1.2 | Saudi Arabia | Mesomelic/rhizomelic limb shortening; Hypoplasia of the radius; Hypoplasia of the ulna; Radial bowing; Ulnar bowing; Short femur; Fibular hypoplasia; Short tibia; Tibial bowing; Fibular bowing; Short humerus | Male | Yes | Yes | Brother of 200700.1.1 |