Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022356.4:c.570_571del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610915.1 | Saudi Arabia | Bone fracture; Rickets; Respiratory failure; Neonatal death | ||||
| 610915.3 | Saudi Arabia | Recurrent fractures; Dentinogenesis imperfecta | Male | Yes | ||
| 610915.4 | Saudi Arabia | Multiple prenatal fractures; Brachycephaly; Triangular face; Wormian bones; Osteopenia | Female | Yes | ||
| 610915.6 | Saudi Arabia | Recurrent infections | Male | Yes | Yes |