Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022356.4:c.1839-2A>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610915.1 | Arab | Bone fracture; Rickets; Respiratory failure; Neonatal death | ||||
| 610915.3 | Arab | Recurrent fractures; Dentinogenesis imperfecta | Male | Yes | ||
| 610915.6 | Arab | Recurrent infections | Male | Yes | Yes | |
| 610915.7 | Arab | Osteopenia; Pulmonary hypoplasia; Recurrent fractures | Male | Yes | Yes |