Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.2230G>T | 1 | NA | ||
| NM_003880.4:c.707del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208230.9 | Yemen | Joint stiffness; Osteopenia; Avascular necrosis | Female | Yes |