Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021939.4:c.1034dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610968.2 | Saudi Arabia | Recurrent fractures; Osteopenia; Scoliosis | Female | Yes | De novo mutation | |
| 610968.3 | Saudi Arabia | Osteopenia; Recurrent fractures | Female | Yes | ||
| 610968.4 | Saudi Arabia | Osteopenia; Recurrent fractures | Male | Yes | ||
| 610968.5 | Saudi Arabia | Recurrent fractures | Female | Yes | ||
| 610968.6 | Saudi Arabia | Oligohydramnios; Fractures of the long bones; Bowing of the long bones ; Multiple joint contractures; Relative macrocephaly; Decreased body weight; Short stature; Blue sclerae; Plagiocephaly; Motor delay | Female | No | Yes |