Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022356.4:c.2056-1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610915.1 | Oman | Bone fracture; Rickets; Respiratory failure; Neonatal death | ||||
| 610915.4 | Oman | Multiple prenatal fractures; Brachycephaly; Triangular face; Wormian bones; Osteopenia | Female | Yes | ||
| 610915.6 | Oman | Recurrent infections | Male | Yes | Yes | |
| 610915.7 | Oman | Osteopenia; Pulmonary hypoplasia; Recurrent fractures | Male | Yes | Yes |