Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_052854.4:c.928_930AAG[2] | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616229.1.1 | Lebanon | Micromelia; Decreased skull ossification; Fractures of the long bones; Fetal onset | Unknown | Yes | Yes | |
| 616229.1.2 | Lebanon | Lethal skeletal dysplasia; Decreased skull ossification; Fractures of the long bones; Fetal onset | Unknown | Yes | Yes | Sibling of 616229.1.1 |
| 616229.1.3 | Lebanon | Lethal skeletal dysplasia | Unknown | Yes | Yes | Sibling of 616229.1.1 |
| 616229.1.4 | Lebanon | Femur fracture; Osteopenia; Blue sclerae | Male | Yes | Yes | Sibling of 616229.1.1 |
| 616229.1.5 | Lebanon | Osteopenia; Blue sclerae | Female | Yes | Yes | Sibling of 616229.1.1 |