Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004560.4:c.1970G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268310.2.2 | Yemen | Hemivertebrae; Hypoplasia of the radius | Male | Yes | Yes | Relative of 268310.2.1 |