Female
Yes
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 |
|---|---|---|---|---|---|---|
| 610915.2.1 | Saudi Arabia | Multiple prenatal fractures; Recurrent infections; Hypochromic anemia; Blue sclerae | Female | Yes | Yes |